{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA493690074",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2454A>G (p.Gln818=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041907A>G?assembly=hg19",
        "id": "chr16:g.14041907A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2543196341",
        "rs": 2543196341
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13948050-A-G?dataset=gnomad_r4",
        "id": "16-13948050-A-G",
        "variant": "16:13948050 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13948050,
          "referenceAllele": "A",
          "start": 13948049
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948050A>G",
        "CM000678.2:g.13948050A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 14041907,
          "referenceAllele": "A",
          "start": 14041906
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041907A>G",
        "CM000678.1:g.14041907A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 13949408,
          "referenceAllele": "A",
          "start": 13949407
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949408A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32894,
          "referenceAllele": "A",
          "start": 32893
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32894A>G",
        "LRG_463:g.32894A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2620,
          "referenceAllele": "A",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2592A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Gln864="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2574,
          "referenceAllele": "A",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2148A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2148A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2466,
          "referenceAllele": "A",
          "start": 2465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2454A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2454A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln818="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln818="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2463,
          "referenceAllele": "A",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1731A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083172164",
      "coordinates": [
        {
          "allele": "G",
          "end": 2463,
          "referenceAllele": "A",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2454A>G",
        "LRG_463t1:c.2454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "A",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2592A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln864="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3146,
          "referenceAllele": "A",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1911A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Gln637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1665A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Gln555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1600,
          "referenceAllele": "A",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1104A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Gln368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "A",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2613A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2621,
          "referenceAllele": "A",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2592A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln864="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2585,
          "referenceAllele": "A",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1665A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Gln555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083172164",
      "coordinates": [
        {
          "allele": "G",
          "end": 2466,
          "referenceAllele": "A",
          "start": 2465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2454A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2454A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln818="
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln818="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}