{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3072277",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790433[alleleid]",
        "alleleId": 790433,
        "preferredName": "NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802086",
        "RCV": [
          "RCV000987470",
          "RCV001453789"
        ],
        "variationId": 802086
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126240778-T-C",
        "id": "4-126240778-T-C",
        "variant": "4:126240778 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126240778T>C?assembly=hg19",
        "id": "chr4:g.126240778T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125319623T>C?assembly=hg38",
        "id": "chr4:g.125319623T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200138872",
        "rs": 200138872
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126240778-T-C?dataset=gnomad_r2_1",
        "id": "4-126240778-T-C",
        "variant": "4:126240778 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125319623-T-C?dataset=gnomad_r3",
        "id": "4-125319623-T-C",
        "variant": "4:125319623 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125319623-T-C?dataset=gnomad_r4",
        "id": "4-125319623-T-C",
        "variant": "4:125319623 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 125319623,
          "referenceAllele": "T",
          "start": 125319622
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125319623T>C",
        "CM000666.2:g.125319623T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 126240778,
          "referenceAllele": "T",
          "start": 126240777
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126240778T>C",
        "CM000666.1:g.126240778T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 126460228,
          "referenceAllele": "T",
          "start": 126460227
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126460228T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8212,
          "referenceAllele": "T",
          "start": 8211
        }
      ],
      "hgvs": [
        "NG_033865.1:g.8212T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4247,
          "referenceAllele": "T",
          "start": 4246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Val1071Ala",
        "hgvsWellDefined": "ENSP00000377862.4:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.3212T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.3212T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Val1071Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Val1071Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "endIntronDirection": "+",
          "endIntronOffset": 3646,
          "referenceAllele": "T",
          "start": 1060,
          "startIntronDirection": "+",
          "startIntronOffset": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.-55+3646T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:n.-55+3646T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000678072.1:n.818T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3225,
          "referenceAllele": "T",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Val1071Ala",
        "hgvsWellDefined": "ENSP00000377862.3:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826790858",
      "coordinates": [
        {
          "allele": "C",
          "end": 3212,
          "referenceAllele": "T",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val1071Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793268",
      "coordinates": [
        {
          "allele": "C",
          "end": 3212,
          "referenceAllele": "T",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Val1071Ala",
        "hgvsWellDefined": "NP_001278232.1:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077127",
      "coordinates": [
        {
          "allele": "C",
          "end": 3212,
          "referenceAllele": "T",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val1071Ala",
        "hgvsWellDefined": "NP_078858.4:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3305,
          "referenceAllele": "T",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Val1071Ala",
        "hgvsWellDefined": "XP_011530538.1:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77,
          "endIntronDirection": "+",
          "endIntronOffset": 3646,
          "referenceAllele": "T",
          "start": 77,
          "startIntronDirection": "+",
          "startIntronOffset": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.-55+3646T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:n.-55+3646T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4289,
          "referenceAllele": "T",
          "start": 4288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Val1071Ala",
        "hgvsWellDefined": "XP_011530538.1:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "endIntronDirection": "+",
          "endIntronOffset": 3646,
          "referenceAllele": "T",
          "start": 1060,
          "startIntronDirection": "+",
          "startIntronOffset": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.-55+3646T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:n.-55+3646T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826790858",
      "coordinates": [
        {
          "allele": "C",
          "end": 4247,
          "referenceAllele": "T",
          "start": 4246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val1071Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793268",
      "coordinates": [
        {
          "allele": "C",
          "end": 4247,
          "referenceAllele": "T",
          "start": 4246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Val1071Ala",
        "hgvsWellDefined": "NP_001278232.1:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.3212T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.3212T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Val1071Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Val1071Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077127",
      "coordinates": [
        {
          "allele": "C",
          "end": 4247,
          "referenceAllele": "T",
          "start": 4246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val1071Ala",
        "hgvsWellDefined": "NP_078858.4:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826790858",
      "coordinates": [
        {
          "allele": "C",
          "end": 4247,
          "referenceAllele": "T",
          "start": 4246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val1071Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077127",
      "coordinates": [
        {
          "allele": "C",
          "end": 4247,
          "referenceAllele": "T",
          "start": 4246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.3212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val1071Ala",
        "hgvsWellDefined": "NP_078858.4:p.Val1071Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}