{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7910663",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2046A>G (p.Gln682=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=429758[alleleid]",
        "alleleId": 429758,
        "preferredName": "NM_005236.3(ERCC4):c.2046A>G (p.Gln682=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/435079",
        "RCV": [
          "RCV000499736",
          "RCV000530646",
          "RCV002258935"
        ],
        "variationId": 435079
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-14041499-A-G",
        "id": "16-14041499-A-G",
        "variant": "16:14041499 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041499A>G?assembly=hg19",
        "id": "chr16:g.14041499A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947642A>G?assembly=hg38",
        "id": "chr16:g.13947642A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/565249189",
        "rs": 565249189
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14041499-A-G?dataset=gnomad_r2_1",
        "id": "16-14041499-A-G",
        "variant": "16:14041499 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13947642-A-G?dataset=gnomad_r3",
        "id": "16-13947642-A-G",
        "variant": "16:13947642 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13947642-A-G?dataset=gnomad_r4",
        "id": "16-13947642-A-G",
        "variant": "16:13947642 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13947642,
          "referenceAllele": "A",
          "start": 13947641
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947642A>G",
        "CM000678.2:g.13947642A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14041499,
          "referenceAllele": "A",
          "start": 14041498
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041499A>G",
        "CM000678.1:g.14041499A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13949000,
          "referenceAllele": "A",
          "start": 13948999
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949000A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32486,
          "referenceAllele": "A",
          "start": 32485
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32486A>G",
        "LRG_463:g.32486A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2184A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Gln728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2166,
          "referenceAllele": "A",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1740A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1740A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2046A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2046A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2046A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln682="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln682="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2046A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "referenceAllele": "A",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1323A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.359A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.359A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829591965",
      "coordinates": [
        {
          "allele": "G",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2046A>G",
        "LRG_463t1:c.2046A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "A",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2184A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2738,
          "referenceAllele": "A",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1503A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Gln501="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1354,
          "referenceAllele": "A",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1257A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Gln419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1192,
          "referenceAllele": "A",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.696A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "A",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2205A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "A",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2184A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1257A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Gln419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829591965",
      "coordinates": [
        {
          "allele": "G",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2046A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2046A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2046A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln682="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln682="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}