{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3072706",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.5401C>T (p.Arg1801Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3009350",
        "active": true,
        "id": "COSM3009350"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3009351",
        "active": true,
        "id": "COSM3009351"
      },
      {
        "active": false,
        "id": "COSM5989711"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425596[alleleid]",
        "alleleId": 425596,
        "preferredName": "NM_001291303.3(FAT4):c.5401C>T (p.Arg1801Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432372",
        "RCV": [
          "RCV000497799",
          "RCV002527139"
        ],
        "variationId": 432372
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126328128-C-T",
        "id": "4-126328128-C-T",
        "variant": "4:126328128 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126328128C>T?assembly=hg19",
        "id": "chr4:g.126328128C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125406973C>T?assembly=hg38",
        "id": "chr4:g.125406973C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201887525",
        "rs": 201887525
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126328128-C-T?dataset=gnomad_r2_1",
        "id": "4-126328128-C-T",
        "variant": "4:126328128 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125406973-C-T?dataset=gnomad_r3",
        "id": "4-125406973-C-T",
        "variant": "4:125406973 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125406973-C-T?dataset=gnomad_r4",
        "id": "4-125406973-C-T",
        "variant": "4:125406973 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 125406973,
          "referenceAllele": "C",
          "start": 125406972
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125406973C>T",
        "CM000666.2:g.125406973C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 126328128,
          "referenceAllele": "C",
          "start": 126328127
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126328128C>T",
        "CM000666.1:g.126328128C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 126547578,
          "referenceAllele": "C",
          "start": 126547577
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126547578C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95562,
          "referenceAllele": "C",
          "start": 95561
        }
      ],
      "hgvs": [
        "NG_033865.1:g.95562C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6436,
          "referenceAllele": "C",
          "start": 6435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Arg1801Trp",
        "hgvsWellDefined": "ENSP00000377862.4:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.5401C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.5401C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Arg1801Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Arg1801Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Arg58Trp",
        "hgvsWellDefined": "ENSP00000501473.2:p.Arg58Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Arg99Trp",
        "hgvsWellDefined": "ENSP00000335169.5:p.Arg99Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5414,
          "referenceAllele": "C",
          "start": 5413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Arg1801Trp",
        "hgvsWellDefined": "ENSP00000377862.3:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791184",
      "coordinates": [
        {
          "allele": "T",
          "end": 5401,
          "referenceAllele": "C",
          "start": 5400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg1801Trp",
        "hgvsWellDefined": "NP_001278214.1:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793593",
      "coordinates": [
        {
          "allele": "T",
          "end": 5401,
          "referenceAllele": "C",
          "start": 5400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Arg1801Trp",
        "hgvsWellDefined": "NP_001278232.1:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391620",
      "coordinates": [
        {
          "allele": "T",
          "end": 5401,
          "referenceAllele": "C",
          "start": 5400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg1801Trp",
        "hgvsWellDefined": "NP_078858.4:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5494,
          "referenceAllele": "C",
          "start": 5493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Arg1801Trp",
        "hgvsWellDefined": "XP_011530538.1:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Arg58Trp",
        "hgvsWellDefined": "XP_011530539.1:p.Arg58Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6478,
          "referenceAllele": "C",
          "start": 6477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Arg1801Trp",
        "hgvsWellDefined": "XP_011530538.1:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Arg58Trp",
        "hgvsWellDefined": "XP_011530539.1:p.Arg58Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791184",
      "coordinates": [
        {
          "allele": "T",
          "end": 6436,
          "referenceAllele": "C",
          "start": 6435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg1801Trp",
        "hgvsWellDefined": "NP_001278214.1:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793593",
      "coordinates": [
        {
          "allele": "T",
          "end": 6436,
          "referenceAllele": "C",
          "start": 6435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Arg1801Trp",
        "hgvsWellDefined": "NP_001278232.1:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.5401C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.5401C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Arg1801Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Arg1801Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391620",
      "coordinates": [
        {
          "allele": "T",
          "end": 6436,
          "referenceAllele": "C",
          "start": 6435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg1801Trp",
        "hgvsWellDefined": "NP_078858.4:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791184",
      "coordinates": [
        {
          "allele": "T",
          "end": 6436,
          "referenceAllele": "C",
          "start": 6435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg1801Trp",
        "hgvsWellDefined": "NP_001278214.1:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391620",
      "coordinates": [
        {
          "allele": "T",
          "end": 6436,
          "referenceAllele": "C",
          "start": 6435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.5401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg1801Trp",
        "hgvsWellDefined": "NP_078858.4:p.Arg1801Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}