{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7910758",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=874643[alleleid]",
        "alleleId": 874643,
        "preferredName": "NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/884980",
        "RCV": [
          "RCV001116323",
          "RCV002558148",
          "RCV003898110"
        ],
        "variationId": 884980
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-14041967-T-C",
        "id": "16-14041967-T-C",
        "variant": "16:14041967 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041967T>C?assembly=hg19",
        "id": "chr16:g.14041967T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13948110T>C?assembly=hg38",
        "id": "chr16:g.13948110T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200069811",
        "rs": 200069811
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14041967-T-C?dataset=gnomad_r2_1",
        "id": "16-14041967-T-C",
        "variant": "16:14041967 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13948110-T-C?dataset=gnomad_r3",
        "id": "16-13948110-T-C",
        "variant": "16:13948110 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13948110-T-C?dataset=gnomad_r4",
        "id": "16-13948110-T-C",
        "variant": "16:13948110 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13948110,
          "referenceAllele": "T",
          "start": 13948109
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948110T>C",
        "CM000678.2:g.13948110T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041967,
          "referenceAllele": "T",
          "start": 14041966
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041967T>C",
        "CM000678.1:g.14041967T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949468,
          "referenceAllele": "T",
          "start": 13949467
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949468T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32954,
          "referenceAllele": "T",
          "start": 32953
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32954T>C",
        "LRG_463:g.32954T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2680,
          "referenceAllele": "T",
          "start": 2679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2652T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Leu884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2634,
          "referenceAllele": "T",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2208T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2208T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2526,
          "referenceAllele": "T",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2514T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Leu838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2514T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2514T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Leu838="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Leu838="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2523,
          "referenceAllele": "T",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2514T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Leu838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1791,
          "referenceAllele": "T",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1791T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592044",
      "coordinates": [
        {
          "allele": "C",
          "end": 2523,
          "referenceAllele": "T",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2514T>C",
        "LRG_463t1:c.2514T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Leu838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2673,
          "referenceAllele": "T",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2652T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Leu884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3206,
          "referenceAllele": "T",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1971T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Leu657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1822,
          "referenceAllele": "T",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1725T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "T",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1164T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Leu388="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2673,
          "referenceAllele": "T",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2673T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2681,
          "referenceAllele": "T",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2652T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Leu884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2645,
          "referenceAllele": "T",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1725T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592044",
      "coordinates": [
        {
          "allele": "C",
          "end": 2526,
          "referenceAllele": "T",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2514T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Leu838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2514T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2514T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Leu838="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Leu838="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}