{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA041703",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.572A>G (p.His191Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=630729[alleleid]",
        "alleleId": 630729,
        "preferredName": "NM_000551.4(VHL):c.572A>G (p.His191Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/658462",
        "RCV": [
          "RCV000815290",
          "RCV001292677",
          "RCV002345864"
        ],
        "variationId": 658462
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-10191579-A-G",
        "id": "3-10191579-A-G",
        "variant": "3:10191579 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10191579A>G?assembly=hg19",
        "id": "chr3:g.10191579A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10149895A>G?assembly=hg38",
        "id": "chr3:g.10149895A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370050374",
        "rs": 370050374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10191579-A-G?dataset=gnomad_r2_1",
        "id": "3-10191579-A-G",
        "variant": "3:10191579 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10149895-A-G?dataset=gnomad_r4",
        "id": "3-10149895-A-G",
        "variant": "3:10149895 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10149895,
          "referenceAllele": "A",
          "start": 10149894
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149895A>G",
        "CM000665.2:g.10149895A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10191579,
          "referenceAllele": "A",
          "start": 10191578
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191579A>G",
        "CM000665.1:g.10191579A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10166579,
          "referenceAllele": "A",
          "start": 10166578
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166579A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13261,
          "referenceAllele": "A",
          "start": 13260
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13261A>G",
        "LRG_322:g.13261A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "A",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*249A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*249A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "referenceAllele": "A",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.708A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.708A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "referenceAllele": "A",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.683A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.His228Arg",
        "hgvsWellDefined": "ENSP00000512444.1:p.His228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.572A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.His191Arg",
        "hgvsWellDefined": "ENSP00000256474.3:p.His191Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.572A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.572A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.His191Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.His191Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "A",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.572A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.His191Arg",
        "hgvsWellDefined": "ENSP00000256474.2:p.His191Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "A",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.449A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.His150Arg",
        "hgvsWellDefined": "ENSP00000344757.2:p.His150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "referenceAllele": "A",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.708A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915960422",
      "coordinates": [
        {
          "allele": "G",
          "end": 785,
          "referenceAllele": "A",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.572A>G",
        "LRG_322t1:c.572A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.His191Arg",
        "hgvsWellDefined": "NP_000542.1:p.His191Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430905",
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "A",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.449A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.His150Arg",
        "hgvsWellDefined": "NP_937799.1:p.His150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "referenceAllele": "A",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*126A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915960422",
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.572A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.His191Arg",
        "hgvsWellDefined": "NP_000542.1:p.His191Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.572A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.572A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.His191Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.His191Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*126A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430905",
      "coordinates": [
        {
          "allele": "G",
          "end": 519,
          "referenceAllele": "A",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.449A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.His150Arg",
        "hgvsWellDefined": "NP_937799.1:p.His150Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}