{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351756093",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.478G>C (p.Glu160Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=943248[alleleid]",
        "alleleId": 943248,
        "preferredName": "NM_000551.4(VHL):c.478G>C (p.Glu160Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/958243",
        "RCV": [
          "RCV001231369",
          "RCV002484264"
        ],
        "variationId": 958243
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10191485G>C?assembly=hg19",
        "id": "chr3:g.10191485G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10149801G>C?assembly=hg38",
        "id": "chr3:g.10149801G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1696354965",
        "rs": 1696354965
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10149801-G-C?dataset=gnomad_r4",
        "id": "3-10149801-G-C",
        "variant": "3:10149801 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10149801,
          "referenceAllele": "G",
          "start": 10149800
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149801G>C",
        "CM000665.2:g.10149801G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10191485,
          "referenceAllele": "G",
          "start": 10191484
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191485G>C",
        "CM000665.1:g.10191485G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10166485,
          "referenceAllele": "G",
          "start": 10166484
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166485G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13167,
          "referenceAllele": "G",
          "start": 13166
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13167G>C",
        "LRG_322:g.13167G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*155G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*155G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.614G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.614G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.589G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Glu197Gln",
        "hgvsWellDefined": "ENSP00000512444.1:p.Glu197Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.478G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Glu160Gln",
        "hgvsWellDefined": "ENSP00000256474.3:p.Glu160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.478G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.478G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu160Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu160Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.478G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Glu160Gln",
        "hgvsWellDefined": "ENSP00000256474.2:p.Glu160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "referenceAllele": "G",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.355G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Glu119Gln",
        "hgvsWellDefined": "ENSP00000344757.2:p.Glu119Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.614G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139676954",
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "G",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.478G>C",
        "LRG_322t1:c.478G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu160Gln",
        "hgvsWellDefined": "NP_000542.1:p.Glu160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430581",
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.355G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu119Gln",
        "hgvsWellDefined": "NP_937799.1:p.Glu119Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*32G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*32G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139676954",
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.478G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu160Gln",
        "hgvsWellDefined": "NP_000542.1:p.Glu160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.478G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.478G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu160Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu160Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*32G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*32G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430581",
      "coordinates": [
        {
          "allele": "C",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.355G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu119Gln",
        "hgvsWellDefined": "NP_937799.1:p.Glu119Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}