{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7910681",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2118T>C (p.Ile706=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=739953[alleleid]",
        "alleleId": 739953,
        "preferredName": "NM_005236.3(ERCC4):c.2118T>C (p.Ile706=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/726488",
        "RCV": [
          "RCV000900708"
        ],
        "variationId": 726488
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-14041571-T-C",
        "id": "16-14041571-T-C",
        "variant": "16:14041571 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041571T>C?assembly=hg19",
        "id": "chr16:g.14041571T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947714T>C?assembly=hg38",
        "id": "chr16:g.13947714T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777766206",
        "rs": 777766206
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14041571-T-C?dataset=gnomad_r2_1",
        "id": "16-14041571-T-C",
        "variant": "16:14041571 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13947714-T-C?dataset=gnomad_r3",
        "id": "16-13947714-T-C",
        "variant": "16:13947714 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13947714-T-C?dataset=gnomad_r4",
        "id": "16-13947714-T-C",
        "variant": "16:13947714 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13947714,
          "referenceAllele": "T",
          "start": 13947713
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947714T>C",
        "CM000678.2:g.13947714T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041571,
          "referenceAllele": "T",
          "start": 14041570
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041571T>C",
        "CM000678.1:g.14041571T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949072,
          "referenceAllele": "T",
          "start": 13949071
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949072T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32558,
          "referenceAllele": "T",
          "start": 32557
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32558T>C",
        "LRG_463:g.32558T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2284,
          "referenceAllele": "T",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2256T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ile752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2238,
          "referenceAllele": "T",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1812T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1812T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2130,
          "referenceAllele": "T",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2118T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ile706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2118T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2118T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ile706="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ile706="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2127,
          "referenceAllele": "T",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2118T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ile706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1395,
          "referenceAllele": "T",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1395T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.431T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.431T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829591971",
      "coordinates": [
        {
          "allele": "C",
          "end": 2127,
          "referenceAllele": "T",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2118T>C",
        "LRG_463t1:c.2118T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ile706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2277,
          "referenceAllele": "T",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2256T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ile752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2810,
          "referenceAllele": "T",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1575T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ile525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1426,
          "referenceAllele": "T",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ile443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "referenceAllele": "T",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.768T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ile256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2277,
          "referenceAllele": "T",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2277T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2285,
          "referenceAllele": "T",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2256T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ile752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2249,
          "referenceAllele": "T",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1329T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ile443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829591971",
      "coordinates": [
        {
          "allele": "C",
          "end": 2130,
          "referenceAllele": "T",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2118T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ile706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2118T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2118T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ile706="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ile706="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}