{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394822689",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2244G>C (p.Met748Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041697G>C?assembly=hg19",
        "id": "chr16:g.14041697G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947840G>C?assembly=hg38",
        "id": "chr16:g.13947840G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2141620281",
        "rs": 2141620281
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13947840,
          "referenceAllele": "G",
          "start": 13947839
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947840G>C",
        "CM000678.2:g.13947840G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041697,
          "referenceAllele": "G",
          "start": 14041696
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041697G>C",
        "CM000678.1:g.14041697G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949198,
          "referenceAllele": "G",
          "start": 13949197
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949198G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32684,
          "referenceAllele": "G",
          "start": 32683
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32684G>C",
        "LRG_463:g.32684G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2410,
          "referenceAllele": "G",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2382G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Met794Ile",
        "hgvsWellDefined": "ENSP00000507912.1:p.Met794Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2364,
          "referenceAllele": "G",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1938G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1938G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2256,
          "referenceAllele": "G",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2244G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Met748Ile",
        "hgvsWellDefined": "ENSP00000310520.7:p.Met748Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2244G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2244G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Met748Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Met748Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2253,
          "referenceAllele": "G",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2244G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Met748Ile",
        "hgvsWellDefined": "ENSP00000310520.7:p.Met748Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1521,
          "referenceAllele": "G",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1521G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.557G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.557G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057571450",
      "coordinates": [
        {
          "allele": "C",
          "end": 2253,
          "referenceAllele": "G",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2244G>C",
        "LRG_463t1:c.2244G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Met748Ile",
        "hgvsWellDefined": "NP_005227.1:p.Met748Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2403,
          "referenceAllele": "G",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2382G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Met794Ile",
        "hgvsWellDefined": "XP_011520726.1:p.Met794Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2936,
          "referenceAllele": "G",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1701G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Met567Ile",
        "hgvsWellDefined": "XP_011520727.1:p.Met567Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "G",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1455G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Met485Ile",
        "hgvsWellDefined": "XP_011520728.1:p.Met485Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.894G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Met298Ile",
        "hgvsWellDefined": "XP_011520729.1:p.Met298Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2403,
          "referenceAllele": "G",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2403G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2411,
          "referenceAllele": "G",
          "start": 2410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2382G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Met794Ile",
        "hgvsWellDefined": "XP_011520726.1:p.Met794Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2375,
          "referenceAllele": "G",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1455G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Met485Ile",
        "hgvsWellDefined": "XP_016878532.1:p.Met485Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057571450",
      "coordinates": [
        {
          "allele": "C",
          "end": 2256,
          "referenceAllele": "G",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2244G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Met748Ile",
        "hgvsWellDefined": "NP_005227.1:p.Met748Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2244G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2244G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Met748Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Met748Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}