{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358985283",
  "communityStandardTitle": [
    "NM_005245.4(FAT1):c.2844G>A (p.Trp948Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5638542",
        "active": true,
        "id": "COSM5638542"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5638543",
        "active": true,
        "id": "COSM5638543"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=932270[alleleid]",
        "alleleId": 932270,
        "preferredName": "NM_005245.4(FAT1):c.2844G>A (p.Trp948Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/940489",
        "RCV": [
          "RCV001210086"
        ],
        "variationId": 940489
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187628138C>T?assembly=hg19",
        "id": "chr4:g.187628138C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186706984C>T?assembly=hg38",
        "id": "chr4:g.186706984C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1744650400",
        "rs": 1744650400
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 186706984,
          "referenceAllele": "C",
          "start": 186706983
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186706984C>T",
        "CM000666.2:g.186706984C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187628138,
          "referenceAllele": "C",
          "start": 187628137
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187628138C>T",
        "CM000666.1:g.187628138C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187865132,
          "referenceAllele": "C",
          "start": 187865131
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187865132C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24932,
          "referenceAllele": "G",
          "start": 24931
        }
      ],
      "hgvs": [
        "NG_046994.1:g.24932G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3055,
          "referenceAllele": "G",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000441802.7:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406229.2:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441802.7:c.2844G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005245.4:c.2844G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406229.2:p.Trp948Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005236.2:p.Trp948Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "referenceAllele": "G",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000441802.6:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406229.2:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3032,
          "referenceAllele": "G",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000614102.4:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479573.1:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3032,
          "referenceAllele": "G",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NM_005245.3:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005236.2:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3424,
          "referenceAllele": "G",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262834.2:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262891.1:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "referenceAllele": "G",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262835.1:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262892.1:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3424,
          "referenceAllele": "G",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_006714139.2:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714202.1:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3205,
          "referenceAllele": "G",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262834.3:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262891.1:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3049,
          "referenceAllele": "G",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262835.2:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262892.1:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3205,
          "referenceAllele": "G",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_006714139.3:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714202.1:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3055,
          "referenceAllele": "G",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NM_005245.4:c.2844G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005236.2:p.Trp948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441802.7:c.2844G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005245.4:c.2844G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406229.2:p.Trp948Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005236.2:p.Trp948Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}