{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351748058",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.130G>C (p.Gly44Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=943244[alleleid]",
        "alleleId": 943244,
        "preferredName": "NM_000551.4(VHL):c.130G>C (p.Gly44Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/959877",
        "RCV": [
          "RCV001233308",
          "RCV002484277"
        ],
        "variationId": 959877
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10183661G>C?assembly=hg19",
        "id": "chr3:g.10183661G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10141977G>C?assembly=hg38",
        "id": "chr3:g.10141977G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1575921446",
        "rs": 1575921446
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10141977-G-C?dataset=gnomad_r4",
        "id": "3-10141977-G-C",
        "variant": "3:10141977 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10141977,
          "referenceAllele": "G",
          "start": 10141976
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141977G>C",
        "CM000665.2:g.10141977G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10183661,
          "referenceAllele": "G",
          "start": 10183660
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183661G>C",
        "CM000665.1:g.10183661G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 10158661,
          "referenceAllele": "G",
          "start": 10158660
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158661G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5343,
          "referenceAllele": "G",
          "start": 5342
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5343G>C",
        "LRG_322:g.5343G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 192,
          "referenceAllele": "G",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Gly44Arg",
        "hgvsWellDefined": "ENSP00000512434.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Gly44Arg",
        "hgvsWellDefined": "ENSP00000512435.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Gly44Arg",
        "hgvsWellDefined": "ENSP00000512444.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Gly44Arg",
        "hgvsWellDefined": "ENSP00000256474.3:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.130G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.130G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Gly44Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Gly44Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 970,
          "referenceAllele": "G",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Gly44Arg",
        "hgvsWellDefined": "ENSP00000256474.2:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Gly44Arg",
        "hgvsWellDefined": "ENSP00000344757.2:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825190716",
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.130G>C",
        "LRG_322t1:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Gly44Arg",
        "hgvsWellDefined": "NP_000542.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764318",
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Gly44Arg",
        "hgvsWellDefined": "NP_937799.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Gly44Arg",
        "hgvsWellDefined": "XP_011532380.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926637",
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Gly44Arg",
        "hgvsWellDefined": "NP_001341652.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825190716",
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Gly44Arg",
        "hgvsWellDefined": "NP_000542.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.130G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.130G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Gly44Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Gly44Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926637",
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Gly44Arg",
        "hgvsWellDefined": "NP_001341652.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764318",
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.130G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Gly44Arg",
        "hgvsWellDefined": "NP_937799.1:p.Gly44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}