{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394822651",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1455976[alleleid]",
        "alleleId": 1455976,
        "preferredName": "NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1348588",
        "RCV": [
          "RCV002034990"
        ],
        "variationId": 1348588
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041689A>G?assembly=hg19",
        "id": "chr16:g.14041689A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947832A>G?assembly=hg38",
        "id": "chr16:g.13947832A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756050702",
        "rs": 756050702
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13947832,
          "referenceAllele": "A",
          "start": 13947831
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947832A>G",
        "CM000678.2:g.13947832A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14041689,
          "referenceAllele": "A",
          "start": 14041688
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041689A>G",
        "CM000678.1:g.14041689A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13949190,
          "referenceAllele": "A",
          "start": 13949189
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949190A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32676,
          "referenceAllele": "A",
          "start": 32675
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32676A>G",
        "LRG_463:g.32676A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2402,
          "referenceAllele": "A",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2374A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ile792Val",
        "hgvsWellDefined": "ENSP00000507912.1:p.Ile792Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2356,
          "referenceAllele": "A",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1930A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1930A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2248,
          "referenceAllele": "A",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2236A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ile746Val",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ile746Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2236A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2236A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ile746Val"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ile746Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2245,
          "referenceAllele": "A",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2236A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ile746Val",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ile746Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1513,
          "referenceAllele": "A",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1513A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "A",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.549A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.549A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573248782",
      "coordinates": [
        {
          "allele": "G",
          "end": 2245,
          "referenceAllele": "A",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2236A>G",
        "LRG_463t1:c.2236A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ile746Val",
        "hgvsWellDefined": "NP_005227.1:p.Ile746Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2395,
          "referenceAllele": "A",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2374A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ile792Val",
        "hgvsWellDefined": "XP_011520726.1:p.Ile792Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2928,
          "referenceAllele": "A",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1693A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ile565Val",
        "hgvsWellDefined": "XP_011520727.1:p.Ile565Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1544,
          "referenceAllele": "A",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1447A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ile483Val",
        "hgvsWellDefined": "XP_011520728.1:p.Ile483Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.886A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ile296Val",
        "hgvsWellDefined": "XP_011520729.1:p.Ile296Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2395,
          "referenceAllele": "A",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2395A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2403,
          "referenceAllele": "A",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2374A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ile792Val",
        "hgvsWellDefined": "XP_011520726.1:p.Ile792Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2367,
          "referenceAllele": "A",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1447A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ile483Val",
        "hgvsWellDefined": "XP_016878532.1:p.Ile483Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573248782",
      "coordinates": [
        {
          "allele": "G",
          "end": 2248,
          "referenceAllele": "A",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2236A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ile746Val",
        "hgvsWellDefined": "NP_005227.1:p.Ile746Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2236A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2236A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ile746Val"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ile746Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}