{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3072127",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.2214C>A (p.Val738=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1309700",
        "active": true,
        "id": "COSM1309700"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1309701",
        "active": true,
        "id": "COSM1309701"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1995079[alleleid]",
        "alleleId": 1995079,
        "preferredName": "NM_001291303.3(FAT4):c.2214C>A (p.Val738=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1943538",
        "RCV": [
          "RCV002650501",
          "RCV003395501"
        ],
        "variationId": 1943538
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126239780-C-A",
        "id": "4-126239780-C-A",
        "variant": "4:126239780 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126239780C>A?assembly=hg19",
        "id": "chr4:g.126239780C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125318625C>A?assembly=hg38",
        "id": "chr4:g.125318625C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753314680",
        "rs": 753314680
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126239780-C-A?dataset=gnomad_r2_1",
        "id": "4-126239780-C-A",
        "variant": "4:126239780 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125318625-C-A?dataset=gnomad_r3",
        "id": "4-125318625-C-A",
        "variant": "4:125318625 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125318625-C-A?dataset=gnomad_r4",
        "id": "4-125318625-C-A",
        "variant": "4:125318625 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 125318625,
          "referenceAllele": "C",
          "start": 125318624
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125318625C>A",
        "CM000666.2:g.125318625C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 126239780,
          "referenceAllele": "C",
          "start": 126239779
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126239780C>A",
        "CM000666.1:g.126239780C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 126459230,
          "referenceAllele": "C",
          "start": 126459229
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126459230C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7214,
          "referenceAllele": "C",
          "start": 7213
        }
      ],
      "hgvs": [
        "NG_033865.1:g.7214C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.2214C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.2214C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Val738="
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Val738="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "endIntronDirection": "+",
          "endIntronOffset": 2648,
          "referenceAllele": "C",
          "start": 1060,
          "startIntronDirection": "+",
          "startIntronOffset": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.-55+2648C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:n.-55+2648C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2227,
          "referenceAllele": "C",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826790717",
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "C",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793127",
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "C",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830014380",
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "C",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2307,
          "referenceAllele": "C",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77,
          "endIntronDirection": "+",
          "endIntronOffset": 2648,
          "referenceAllele": "C",
          "start": 77,
          "startIntronDirection": "+",
          "startIntronOffset": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.-55+2648C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:n.-55+2648C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3291,
          "referenceAllele": "C",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "endIntronDirection": "+",
          "endIntronOffset": 2648,
          "referenceAllele": "C",
          "start": 1060,
          "startIntronDirection": "+",
          "startIntronOffset": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.-55+2648C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:n.-55+2648C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826790717",
      "coordinates": [
        {
          "allele": "A",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793127",
      "coordinates": [
        {
          "allele": "A",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.2214C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.2214C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Val738="
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Val738="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830014380",
      "coordinates": [
        {
          "allele": "A",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826790717",
      "coordinates": [
        {
          "allele": "A",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830014380",
      "coordinates": [
        {
          "allele": "A",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.2214C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}