{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394823163",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2357C>T (p.Ser786Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=917879[alleleid]",
        "alleleId": 917879,
        "preferredName": "NM_005236.3(ERCC4):c.2357C>T (p.Ser786Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/929560",
        "RCV": [
          "RCV001194783"
        ],
        "variationId": 929560
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041810C>T?assembly=hg19",
        "id": "chr16:g.14041810C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947953C>T?assembly=hg38",
        "id": "chr16:g.13947953C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1451008479",
        "rs": 1451008479
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14041810-C-T?dataset=gnomad_r2_1",
        "id": "16-14041810-C-T",
        "variant": "16:14041810 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13947953-C-T?dataset=gnomad_r4",
        "id": "16-13947953-C-T",
        "variant": "16:13947953 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 13947953,
          "referenceAllele": "C",
          "start": 13947952
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947953C>T",
        "CM000678.2:g.13947953C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 14041810,
          "referenceAllele": "C",
          "start": 14041809
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041810C>T",
        "CM000678.1:g.14041810C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 13949311,
          "referenceAllele": "C",
          "start": 13949310
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949311C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32797,
          "referenceAllele": "C",
          "start": 32796
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32797C>T",
        "LRG_463:g.32797C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2523,
          "referenceAllele": "C",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ser832Phe",
        "hgvsWellDefined": "ENSP00000507912.1:p.Ser832Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2477,
          "referenceAllele": "C",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2051C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2051C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2357C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ser786Phe",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ser786Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2357C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2357C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ser786Phe"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ser786Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2366,
          "referenceAllele": "C",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2357C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ser786Phe",
        "hgvsWellDefined": "ENSP00000310520.7:p.Ser786Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1634C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.670C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100952",
      "coordinates": [
        {
          "allele": "T",
          "end": 2366,
          "referenceAllele": "C",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2357C>T",
        "LRG_463t1:c.2357C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ser786Phe",
        "hgvsWellDefined": "NP_005227.1:p.Ser786Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2495C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ser832Phe",
        "hgvsWellDefined": "XP_011520726.1:p.Ser832Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3049,
          "referenceAllele": "C",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1814C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ser605Phe",
        "hgvsWellDefined": "XP_011520727.1:p.Ser605Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ser523Phe",
        "hgvsWellDefined": "XP_011520728.1:p.Ser523Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "referenceAllele": "C",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ser336Phe",
        "hgvsWellDefined": "XP_011520729.1:p.Ser336Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2516C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2524,
          "referenceAllele": "C",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2495C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ser832Phe",
        "hgvsWellDefined": "XP_011520726.1:p.Ser832Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2488,
          "referenceAllele": "C",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ser523Phe",
        "hgvsWellDefined": "XP_016878532.1:p.Ser523Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100952",
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2357C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ser786Phe",
        "hgvsWellDefined": "NP_005227.1:p.Ser786Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2357C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2357C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ser786Phe"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ser786Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}