{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394823776",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2437T>C (p.Phe813Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041890T>C?assembly=hg19",
        "id": "chr16:g.14041890T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13948033T>C?assembly=hg38",
        "id": "chr16:g.13948033T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13948033,
          "referenceAllele": "T",
          "start": 13948032
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948033T>C",
        "CM000678.2:g.13948033T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14041890,
          "referenceAllele": "T",
          "start": 14041889
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041890T>C",
        "CM000678.1:g.14041890T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 13949391,
          "referenceAllele": "T",
          "start": 13949390
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949391T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32877,
          "referenceAllele": "T",
          "start": 32876
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32877T>C",
        "LRG_463:g.32877T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2603,
          "referenceAllele": "T",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2575T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Phe859Leu",
        "hgvsWellDefined": "ENSP00000507912.1:p.Phe859Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2557,
          "referenceAllele": "T",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2131T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2131T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2437T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Phe813Leu",
        "hgvsWellDefined": "ENSP00000310520.7:p.Phe813Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2437T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2437T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Phe813Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Phe813Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2446,
          "referenceAllele": "T",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2437T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Phe813Leu",
        "hgvsWellDefined": "ENSP00000310520.7:p.Phe813Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1714,
          "referenceAllele": "T",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1714T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2446,
          "referenceAllele": "T",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2437T>C",
        "LRG_463t1:c.2437T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Phe813Leu",
        "hgvsWellDefined": "NP_005227.1:p.Phe813Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2596,
          "referenceAllele": "T",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2575T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Phe859Leu",
        "hgvsWellDefined": "XP_011520726.1:p.Phe859Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3129,
          "referenceAllele": "T",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1894T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Phe632Leu",
        "hgvsWellDefined": "XP_011520727.1:p.Phe632Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "T",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1648T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Phe550Leu",
        "hgvsWellDefined": "XP_011520728.1:p.Phe550Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1583,
          "referenceAllele": "T",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1087T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Phe363Leu",
        "hgvsWellDefined": "XP_011520729.1:p.Phe363Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2596,
          "referenceAllele": "T",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2596T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2604,
          "referenceAllele": "T",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2575T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Phe859Leu",
        "hgvsWellDefined": "XP_011520726.1:p.Phe859Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2568,
          "referenceAllele": "T",
          "start": 2567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1648T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Phe550Leu",
        "hgvsWellDefined": "XP_016878532.1:p.Phe550Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2437T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Phe813Leu",
        "hgvsWellDefined": "NP_005227.1:p.Phe813Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2437T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2437T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Phe813Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Phe813Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}