{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA249006",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.974-6T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=215505[alleleid]",
        "alleleId": 215505,
        "preferredName": "NM_005236.3(ERCC4):c.974-6T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218668",
        "RCV": [
          "RCV000202807",
          "RCV000353369",
          "RCV000964431",
          "RCV002257501",
          "RCV003417735"
        ],
        "variationId": 218668
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-14026008-T-C",
        "id": "16-14026008-T-C",
        "variant": "16:14026008 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14026008T>C?assembly=hg19",
        "id": "chr16:g.14026008T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13932151T>C?assembly=hg38",
        "id": "chr16:g.13932151T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201181735",
        "rs": 201181735
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14026008-T-C?dataset=gnomad_r2_1",
        "id": "16-14026008-T-C",
        "variant": "16:14026008 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13932151-T-C?dataset=gnomad_r3",
        "id": "16-13932151-T-C",
        "variant": "16:13932151 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13932151-T-C?dataset=gnomad_r4",
        "id": "16-13932151-T-C",
        "variant": "16:13932151 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13932151,
          "referenceAllele": "T",
          "start": 13932150
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13932151T>C",
        "CM000678.2:g.13932151T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14026008,
          "referenceAllele": "T",
          "start": 14026007
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14026008T>C",
        "CM000678.1:g.14026008T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13933509,
          "referenceAllele": "T",
          "start": 13933508
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13933509T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16995,
          "referenceAllele": "T",
          "start": 16994
        }
      ],
      "hgvs": [
        "NG_011442.1:g.16995T>C",
        "LRG_463:g.16995T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 961,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 961,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682552.1:n.962-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682568.1:n.1052-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1139,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1139,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.1112-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:n.1112-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1130,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682826.1:c.*288-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507274.1:n.*288-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3013,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 3013,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682909.1:n.3014-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2618,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 2618,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683277.1:n.2619-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683407.1:n.982-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1093,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1093,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*668-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*668-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.974-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:n.974-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.974-6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.974-6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:n.974-6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:n.974-6T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.974-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:n.974-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 126,
          "referenceAllele": "T",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.126T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000574194.1:c.501-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000575156.5:c.974-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459933.1:n.974-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.974-6T>C",
        "LRG_463t1:c.974-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:n.974-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1132,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1132,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.1112-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:n.1112-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1665,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1665,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.431-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:n.431-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 281,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.185-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:n.185-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1132,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1132,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.1133-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1140,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.1112-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:n.1112-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.185-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:n.185-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.974-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:n.974-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.974-6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.974-6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:n.974-6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:n.974-6T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}