{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373313364",
  "communityStandardTitle": [
    "NM_004629.2(FANCG):c.776T>C (p.Met259Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35076969A>G?assembly=hg19",
        "id": "chr9:g.35076969A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.35076972A>G?assembly=hg38",
        "id": "chr9:g.35076972A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35076972,
          "referenceAllele": "A",
          "start": 35076971
        }
      ],
      "hgvs": [
        "NC_000009.12:g.35076972A>G",
        "CM000671.2:g.35076972A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35076969,
          "referenceAllele": "A",
          "start": 35076968
        }
      ],
      "hgvs": [
        "NC_000009.11:g.35076969A>G",
        "CM000671.1:g.35076969A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 35066969,
          "referenceAllele": "A",
          "start": 35066968
        }
      ],
      "hgvs": [
        "NC_000009.10:g.35066969A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8045,
          "referenceAllele": "T",
          "start": 8044
        }
      ],
      "hgvs": [
        "NG_007312.1:g.8045T>C",
        "LRG_499:g.8045T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 771,
          "referenceAllele": "T",
          "start": 770
        }
      ],
      "hgvs": [
        "NG_007887.1:g.771T>C",
        "LRG_657:g.771T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000694"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "referenceAllele": "T",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000448890.2:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409607.2:p.Met259Thr",
        "hgvsWellDefined": "ENSP00000409607.2:p.Met259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1993,
          "referenceAllele": "T",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000461149.2:n.1993T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "T",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696700.1:n.2028T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "T",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696701.1:n.880T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "T",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696702.1:c.*252T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512821.1:n.*252T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 607,
          "referenceAllele": "T",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696703.1:c.*252T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512822.1:n.*252T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 839,
          "referenceAllele": "T",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696706.1:n.839T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "T",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696707.1:n.993T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 856,
          "endIntronDirection": "-",
          "endIntronOffset": 101,
          "referenceAllele": "T",
          "start": 856,
          "startIntronDirection": "-",
          "startIntronOffset": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696708.1:c.*123-102T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512825.1:n.*123-102T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696709.1:n.1178T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696710.1:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512826.1:p.Met259Thr",
        "hgvsWellDefined": "ENSP00000512826.1:p.Met259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2125,
          "referenceAllele": "T",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696711.1:n.2125T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "T",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696712.1:n.863T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696713.1:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512827.1:p.Met259Thr",
        "hgvsWellDefined": "ENSP00000512827.1:p.Met259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "referenceAllele": "T",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696714.1:n.1252T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000696715.1:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512828.1:p.Met259Thr",
        "hgvsWellDefined": "ENSP00000512828.1:p.Met259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1194,
          "referenceAllele": "T",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000378643.8:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367910.4:p.Met259Thr",
        "hgvsWellDefined": "ENSP00000367910.4:p.Met259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378643.8:c.776T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004629.2:c.776T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367910.4:p.Met259Thr"
          },
          "RefSeq": {
            "hgvs": "NP_004620.1:p.Met259Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "T",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000378643.7:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367910.3:p.Met259Thr",
        "hgvsWellDefined": "ENSP00000367910.3:p.Met259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "referenceAllele": "T",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "ENST00000425676.5:c.*252T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412793.1:n.*252T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "T",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "NM_004629.1:c.776T>C",
        "LRG_499t1:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004620.1:p.Met259Thr",
        "hgvsWellDefined": "NP_004620.1:p.Met259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1194,
          "referenceAllele": "T",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003588",
      "geneNCBI_id": 2189,
      "geneSymbol": "FANCG",
      "hgvs": [
        "NM_004629.2:c.776T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004620.1:p.Met259Thr",
        "hgvsWellDefined": "NP_004620.1:p.Met259Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696196",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378643.8:c.776T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004629.2:c.776T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367910.4:p.Met259Thr"
          },
          "RefSeq": {
            "hgvs": "NP_004620.1:p.Met259Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}