{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7910785",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1898115[alleleid]",
        "alleleId": 1898115,
        "preferredName": "NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2177034",
        "RCV": [
          "RCV002610352"
        ],
        "variationId": 2177034
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-14042094-C-G",
        "id": "16-14042094-C-G",
        "variant": "16:14042094 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14042094C>G?assembly=hg19",
        "id": "chr16:g.14042094C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13948237C>G?assembly=hg38",
        "id": "chr16:g.13948237C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754131812",
        "rs": 754131812
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14042094-C-G?dataset=gnomad_r2_1",
        "id": "16-14042094-C-G",
        "variant": "16:14042094 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13948237-C-G?dataset=gnomad_r3",
        "id": "16-13948237-C-G",
        "variant": "16:13948237 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13948237-C-G?dataset=gnomad_r4",
        "id": "16-13948237-C-G",
        "variant": "16:13948237 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13948237,
          "referenceAllele": "C",
          "start": 13948236
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948237C>G",
        "CM000678.2:g.13948237C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14042094,
          "referenceAllele": "C",
          "start": 14042093
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14042094C>G",
        "CM000678.1:g.14042094C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13949595,
          "referenceAllele": "C",
          "start": 13949594
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949595C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33081,
          "referenceAllele": "C",
          "start": 33080
        }
      ],
      "hgvs": [
        "NG_011442.1:g.33081C>G",
        "LRG_463:g.33081C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2807,
          "referenceAllele": "C",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Gln927Glu",
        "hgvsWellDefined": "ENSP00000507912.1:p.Gln927Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2761,
          "referenceAllele": "C",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2335C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2335C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2653,
          "referenceAllele": "C",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2641C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln881Glu",
        "hgvsWellDefined": "ENSP00000310520.7:p.Gln881Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2641C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2641C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln881Glu"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln881Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2650,
          "referenceAllele": "C",
          "start": 2649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2641C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln881Glu",
        "hgvsWellDefined": "ENSP00000310520.7:p.Gln881Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1918C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580317619",
      "coordinates": [
        {
          "allele": "G",
          "end": 2650,
          "referenceAllele": "C",
          "start": 2649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2641C>G",
        "LRG_463t1:c.2641C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln881Glu",
        "hgvsWellDefined": "NP_005227.1:p.Gln881Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2800,
          "referenceAllele": "C",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2779C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln927Glu",
        "hgvsWellDefined": "XP_011520726.1:p.Gln927Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "C",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.2098C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Gln700Glu",
        "hgvsWellDefined": "XP_011520727.1:p.Gln700Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1852C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Gln618Glu",
        "hgvsWellDefined": "XP_011520728.1:p.Gln618Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1291C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Gln431Glu",
        "hgvsWellDefined": "XP_011520729.1:p.Gln431Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2800,
          "referenceAllele": "C",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2800C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2808,
          "referenceAllele": "C",
          "start": 2807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2779C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln927Glu",
        "hgvsWellDefined": "XP_011520726.1:p.Gln927Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2772,
          "referenceAllele": "C",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1852C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Gln618Glu",
        "hgvsWellDefined": "XP_016878532.1:p.Gln618Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580317619",
      "coordinates": [
        {
          "allele": "G",
          "end": 2653,
          "referenceAllele": "C",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2641C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln881Glu",
        "hgvsWellDefined": "NP_005227.1:p.Gln881Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2641C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2641C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln881Glu"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln881Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}