{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA70049557",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.430G>A (p.Gly144Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1035874",
        "active": true,
        "id": "COSM1035874"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=562248[alleleid]",
        "alleleId": 562248,
        "preferredName": "NM_000551.4(VHL):c.430G>A (p.Gly144Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/576437",
        "RCV": [
          "RCV000698934",
          "RCV002477597",
          "RCV002332473"
        ],
        "variationId": 576437
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10188287G>A?assembly=hg19",
        "id": "chr3:g.10188287G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10146603G>A?assembly=hg38",
        "id": "chr3:g.10146603G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869025650",
        "rs": 869025650
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10188287-G-A?dataset=gnomad_r2_1",
        "id": "3-10188287-G-A",
        "variant": "3:10188287 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10146603-G-A?dataset=gnomad_r4",
        "id": "3-10146603-G-A",
        "variant": "3:10146603 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10146603,
          "referenceAllele": "G",
          "start": 10146602
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10146603G>A",
        "CM000665.2:g.10146603G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10188287,
          "referenceAllele": "G",
          "start": 10188286
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10188287G>A",
        "CM000665.1:g.10188287G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10163287,
          "referenceAllele": "G",
          "start": 10163286
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10163287G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9969,
          "referenceAllele": "G",
          "start": 9968
        }
      ],
      "hgvs": [
        "NG_008212.3:g.9969G>A",
        "LRG_322:g.9969G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*107G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 3183,
          "referenceAllele": "G",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.600-3184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.600-3184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Gly144Arg",
        "hgvsWellDefined": "ENSP00000512444.1:p.Gly144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Gly144Arg",
        "hgvsWellDefined": "ENSP00000256474.3:p.Gly144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.430G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.430G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Gly144Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Gly144Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Gly144Arg",
        "hgvsWellDefined": "ENSP00000256474.2:p.Gly144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 3183,
          "referenceAllele": "G",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.341-3184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:n.341-3184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.566G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658799977",
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.430G>A",
        "LRG_322t1:c.430G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Gly144Arg",
        "hgvsWellDefined": "NP_000542.1:p.Gly144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 3183,
          "referenceAllele": "G",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.341-3184G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.341-3184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "endIntronDirection": "-",
          "endIntronOffset": 3183,
          "referenceAllele": "G",
          "start": 812,
          "startIntronDirection": "-",
          "startIntronOffset": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*18-3184G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*18-3184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658799977",
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.430G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Gly144Arg",
        "hgvsWellDefined": "NP_000542.1:p.Gly144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.430G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.430G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Gly144Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Gly144Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "endIntronDirection": "-",
          "endIntronOffset": 3183,
          "referenceAllele": "G",
          "start": 669,
          "startIntronDirection": "-",
          "startIntronOffset": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*18-3184G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*18-3184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 3183,
          "referenceAllele": "G",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.341-3184G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.341-3184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}