{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394821132",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2046A>C (p.Gln682His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041499A>C?assembly=hg19",
        "id": "chr16:g.14041499A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947642A>C?assembly=hg38",
        "id": "chr16:g.13947642A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13947642,
          "referenceAllele": "A",
          "start": 13947641
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947642A>C",
        "CM000678.2:g.13947642A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041499,
          "referenceAllele": "A",
          "start": 14041498
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041499A>C",
        "CM000678.1:g.14041499A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949000,
          "referenceAllele": "A",
          "start": 13948999
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949000A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32486,
          "referenceAllele": "A",
          "start": 32485
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32486A>C",
        "LRG_463:g.32486A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2184A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Gln728His",
        "hgvsWellDefined": "ENSP00000507912.1:p.Gln728His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2166,
          "referenceAllele": "A",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1740A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1740A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2046A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln682His",
        "hgvsWellDefined": "ENSP00000310520.7:p.Gln682His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2046A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2046A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln682His"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln682His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2046A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln682His",
        "hgvsWellDefined": "ENSP00000310520.7:p.Gln682His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "referenceAllele": "A",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1323A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.359A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.359A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2055,
          "referenceAllele": "A",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2046A>C",
        "LRG_463t1:c.2046A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln682His",
        "hgvsWellDefined": "NP_005227.1:p.Gln682His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2205,
          "referenceAllele": "A",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2184A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln728His",
        "hgvsWellDefined": "XP_011520726.1:p.Gln728His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2738,
          "referenceAllele": "A",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1503A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Gln501His",
        "hgvsWellDefined": "XP_011520727.1:p.Gln501His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1354,
          "referenceAllele": "A",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1257A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Gln419His",
        "hgvsWellDefined": "XP_011520728.1:p.Gln419His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "A",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.696A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Gln232His",
        "hgvsWellDefined": "XP_011520729.1:p.Gln232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2205,
          "referenceAllele": "A",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2205A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "referenceAllele": "A",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2184A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln728His",
        "hgvsWellDefined": "XP_011520726.1:p.Gln728His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1257A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Gln419His",
        "hgvsWellDefined": "XP_016878532.1:p.Gln419His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2046A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln682His",
        "hgvsWellDefined": "NP_005227.1:p.Gln682His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2046A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2046A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln682His"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln682His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}