{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375644689",
  "communityStandardTitle": [
    "NM_017617.5(NOTCH1):c.4850T>C (p.Phe1617Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139399293A>G?assembly=hg19",
        "id": "chr9:g.139399293A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136504841A>G?assembly=hg38",
        "id": "chr9:g.136504841A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2133336422",
        "rs": 2133336422
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136504841-A-G?dataset=gnomad_r4",
        "id": "9-136504841-A-G",
        "variant": "9:136504841 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 136504841,
          "referenceAllele": "A",
          "start": 136504840
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136504841A>G",
        "CM000671.2:g.136504841A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 139399293,
          "referenceAllele": "A",
          "start": 139399292
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139399293A>G",
        "CM000671.1:g.139399293A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 138519114,
          "referenceAllele": "A",
          "start": 138519113
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138519114A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45946,
          "referenceAllele": "T",
          "start": 45945
        }
      ],
      "hgvs": [
        "NG_007458.1:g.45946T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2657,
          "referenceAllele": "T",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000645828.1:n.2657T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5112,
          "referenceAllele": "T",
          "start": 5111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000651671.1:c.4850T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498587.1:p.Phe1617Ser",
        "hgvsWellDefined": "ENSP00000498587.1:p.Phe1617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4850T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4850T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Phe1617Ser"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Phe1617Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5112,
          "referenceAllele": "T",
          "start": 5111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000679595.1:c.4850T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506241.1:p.Phe1617Ser",
        "hgvsWellDefined": "ENSP00000506241.1:p.Phe1617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4947,
          "referenceAllele": "T",
          "start": 4946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680133.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505319.1:p.Phe1579Ser",
        "hgvsWellDefined": "ENSP00000505319.1:p.Phe1579Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4992,
          "referenceAllele": "T",
          "start": 4991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680218.1:c.4730T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505339.1:p.Phe1577Ser",
        "hgvsWellDefined": "ENSP00000505339.1:p.Phe1577Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4998,
          "referenceAllele": "T",
          "start": 4997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680668.1:c.4736T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506336.1:p.Phe1579Ser",
        "hgvsWellDefined": "ENSP00000506336.1:p.Phe1579Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2539,
          "referenceAllele": "T",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680778.1:c.2447T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506033.1:p.Phe816Ser",
        "hgvsWellDefined": "ENSP00000506033.1:p.Phe816Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5080,
          "referenceAllele": "T",
          "start": 5079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680924.1:c.*2250T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506031.1:n.*2250T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5193,
          "referenceAllele": "T",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681135.1:c.*2459T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506636.1:n.*2459T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "referenceAllele": "T",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681298.1:n.1663T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4510,
          "referenceAllele": "T",
          "start": 4509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681454.1:c.*4086T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505763.1:n.*4086T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4926,
          "referenceAllele": "T",
          "start": 4925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000277541.6:c.4850T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277541.6:p.Phe1617Ser",
        "hgvsWellDefined": "ENSP00000277541.6:p.Phe1617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5,
          "referenceAllele": "T",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000494783.1:n.5T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076447254",
      "coordinates": [
        {
          "allele": "C",
          "end": 4850,
          "referenceAllele": "T",
          "start": 4849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.3:c.4850T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Phe1617Ser",
        "hgvsWellDefined": "NP_060087.3:p.Phe1617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4170,
          "referenceAllele": "T",
          "start": 4169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.1:c.4151T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.1:p.Phe1384Ser",
        "hgvsWellDefined": "XP_011517019.1:p.Phe1384Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076447254",
      "coordinates": [
        {
          "allele": "C",
          "end": 5112,
          "referenceAllele": "T",
          "start": 5111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.5:c.4850T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Phe1617Ser",
        "hgvsWellDefined": "NP_060087.3:p.Phe1617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4850T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4850T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Phe1617Ser"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Phe1617Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4142,
          "referenceAllele": "T",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.2:c.4127T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.2:p.Phe1376Ser",
        "hgvsWellDefined": "XP_011517019.2:p.Phe1376Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545044"
    }
  ],
  "type": "nucleotide"
}