{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602788", "communityStandardTitle": [ "NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=43355", "active": true, "id": "COSM43355" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363224[alleleid]", "alleleId": 363224, "preferredName": "NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376345", "RCV": [ "RCV000434852" ], "variationId": 376345 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.139399219C>G?assembly=hg19", "id": "chr9:g.139399219C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.136504767C>G?assembly=hg38", "id": "chr9:g.136504767C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519863", "rs": 1057519863 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-136504767-C-G?dataset=gnomad_r4", "id": "9-136504767-C-G", "variant": "9:136504767 C / G" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 136504767, "referenceAllele": "C", "start": 136504766 } ], "hgvs": [ "NC_000009.12:g.136504767C>G", "CM000671.2:g.136504767C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 139399219, "referenceAllele": "C", "start": 139399218 } ], "hgvs": [ "NC_000009.11:g.139399219C>G", "CM000671.1:g.139399219C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 138519040, "referenceAllele": "C", "start": 138519039 } ], "hgvs": [ "NC_000009.10:g.138519040C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 46020, "referenceAllele": "G", "start": 46019 } ], "hgvs": [ "NG_007458.1:g.46020G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000584" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2731, "referenceAllele": "G", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000645828.1:n.2731G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768563" }, { "coordinates": [ { "allele": "C", "end": 5186, "referenceAllele": "G", "start": 5185 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000651671.1:c.4924G>C" ], "proteinEffect": { "hgvs": "ENSP00000498587.1:p.Asp1642His", "hgvsWellDefined": "ENSP00000498587.1:p.Asp1642His" }, "referenceSequence": "http://reg.genome.network/refseq/RS771797", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651671.1:c.4924G>C" }, "RefSeq": { "hgvs": "NM_017617.5:c.4924G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498587.1:p.Asp1642His" }, "RefSeq": { "hgvs": "NP_060087.3:p.Asp1642His" } } } }, { "coordinates": [ { "allele": "C", "end": 5186, "referenceAllele": "G", "start": 5185 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000679595.1:c.4924G>C" ], "proteinEffect": { "hgvs": "ENSP00000506241.1:p.Asp1642His", "hgvsWellDefined": "ENSP00000506241.1:p.Asp1642His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779223" }, { "coordinates": [ { "allele": "C", "end": 5021, "referenceAllele": "G", "start": 5020 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680133.1:c.4810G>C" ], "proteinEffect": { "hgvs": "ENSP00000505319.1:p.Asp1604His", "hgvsWellDefined": "ENSP00000505319.1:p.Asp1604His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779754" }, { "coordinates": [ { "allele": "C", "end": 5066, "referenceAllele": "G", "start": 5065 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680218.1:c.4804G>C" ], "proteinEffect": { "hgvs": "ENSP00000505339.1:p.Asp1602His", "hgvsWellDefined": "ENSP00000505339.1:p.Asp1602His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779838" }, { "coordinates": [ { "allele": "C", "end": 5072, "referenceAllele": "G", "start": 5071 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680668.1:c.4810G>C" ], "proteinEffect": { "hgvs": "ENSP00000506336.1:p.Asp1604His", "hgvsWellDefined": "ENSP00000506336.1:p.Asp1604His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780283" }, { "coordinates": [ { "allele": "C", "end": 2613, "referenceAllele": "G", "start": 2612 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680778.1:c.2521G>C" ], "proteinEffect": { "hgvs": "ENSP00000506033.1:p.Asp841His", "hgvsWellDefined": "ENSP00000506033.1:p.Asp841His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780393" }, { "coordinates": [ { "allele": "C", "end": 5154, "referenceAllele": "G", "start": 5153 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680924.1:c.*2324G>C" ], "proteinEffect": { "hgvs": "ENSP00000506031.1:n.*2324G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS780538" }, { "coordinates": [ { "allele": "C", "end": 5267, "referenceAllele": "G", "start": 5266 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000681135.1:c.*2533G>C" ], "proteinEffect": { "hgvs": "ENSP00000506636.1:n.*2533G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS780747" }, { "coordinates": [ { "allele": "C", "end": 1737, "referenceAllele": "G", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000681298.1:n.1737G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS780909" }, { "coordinates": [ { "allele": "C", "end": 4584, "referenceAllele": "G", "start": 4583 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000681454.1:c.*4160G>C" ], "proteinEffect": { "hgvs": "ENSP00000505763.1:n.*4160G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS781061" }, { "coordinates": [ { "allele": "C", "end": 5000, "referenceAllele": "G", "start": 4999 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000277541.6:c.4924G>C" ], "proteinEffect": { "hgvs": "ENSP00000277541.6:p.Asp1642His", "hgvsWellDefined": "ENSP00000277541.6:p.Asp1642His" }, "referenceSequence": "http://reg.genome.network/refseq/RS252749" }, { "coordinates": [ { "allele": "C", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000494783.1:n.79G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS331629" }, { "@id": "http://reg.genome.network/allele/PA645491205", "coordinates": [ { "allele": "C", "end": 4924, "referenceAllele": "G", "start": 4923 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "NM_017617.3:c.4924G>C" ], "proteinEffect": { "hgvs": "NP_060087.3:p.Asp1642His", "hgvsWellDefined": "NP_060087.3:p.Asp1642His" }, "referenceSequence": "http://reg.genome.network/refseq/RS035047" }, { "coordinates": [ { "allele": "C", "end": 4244, "referenceAllele": "G", "start": 4243 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "XM_011518717.1:c.4225G>C" ], "proteinEffect": { "hgvs": "XP_011517019.1:p.Asp1409His", "hgvsWellDefined": "XP_011517019.1:p.Asp1409His" }, "referenceSequence": "http://reg.genome.network/refseq/RS085891" }, { "@id": "http://reg.genome.network/allele/PA645491205", "coordinates": [ { "allele": "C", "end": 5186, "referenceAllele": "G", "start": 5185 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "NM_017617.5:c.4924G>C" ], "proteinEffect": { "hgvs": "NP_060087.3:p.Asp1642His", "hgvsWellDefined": "NP_060087.3:p.Asp1642His" }, "referenceSequence": "http://reg.genome.network/refseq/RS525815", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651671.1:c.4924G>C" }, "RefSeq": { "hgvs": "NM_017617.5:c.4924G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498587.1:p.Asp1642His" }, "RefSeq": { "hgvs": "NP_060087.3:p.Asp1642His" } } } }, { "coordinates": [ { "allele": "C", "end": 4216, "referenceAllele": "G", "start": 4215 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "XM_011518717.2:c.4201G>C" ], "proteinEffect": { "hgvs": "XP_011517019.2:p.Asp1401His", "hgvsWellDefined": "XP_011517019.2:p.Asp1401His" }, "referenceSequence": "http://reg.genome.network/refseq/RS545044" } ], "type": "nucleotide" }