{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3074002",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=367886[alleleid]",
        "alleleId": 367886,
        "preferredName": "NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/380887",
        "RCV": [
          "RCV000423018",
          "RCV000960022",
          "RCV003912656"
        ],
        "variationId": 380887
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126389831-C-T",
        "id": "4-126389831-C-T",
        "variant": "4:126389831 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126389831C>T?assembly=hg19",
        "id": "chr4:g.126389831C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125468676C>T?assembly=hg38",
        "id": "chr4:g.125468676C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138019311",
        "rs": 138019311
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126389831-C-T?dataset=gnomad_r2_1",
        "id": "4-126389831-C-T",
        "variant": "4:126389831 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125468676-C-T?dataset=gnomad_r3",
        "id": "4-125468676-C-T",
        "variant": "4:125468676 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125468676-C-T?dataset=gnomad_r4",
        "id": "4-125468676-C-T",
        "variant": "4:125468676 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 125468676,
          "referenceAllele": "C",
          "start": 125468675
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125468676C>T",
        "CM000666.2:g.125468676C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 126389831,
          "referenceAllele": "C",
          "start": 126389830
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126389831C>T",
        "CM000666.1:g.126389831C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 126609281,
          "referenceAllele": "C",
          "start": 126609280
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126609281C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157265,
          "referenceAllele": "C",
          "start": 157264
        }
      ],
      "hgvs": [
        "NG_033865.1:g.157265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13105,
          "referenceAllele": "C",
          "start": 13104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.12070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Arg4024Trp",
        "hgvsWellDefined": "ENSP00000377862.4:p.Arg4024Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.12070C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.12070C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Arg4024Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Arg4024Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7955,
          "referenceAllele": "C",
          "start": 7954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.6841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Arg2281Trp",
        "hgvsWellDefined": "ENSP00000501473.2:p.Arg2281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6853,
          "referenceAllele": "C",
          "start": 6852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.6853C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Arg2285Trp",
        "hgvsWellDefined": "ENSP00000335169.5:p.Arg2285Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12077,
          "referenceAllele": "C",
          "start": 12076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.12064C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Arg4022Trp",
        "hgvsWellDefined": "ENSP00000377862.3:p.Arg4022Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792195",
      "coordinates": [
        {
          "allele": "T",
          "end": 12070,
          "referenceAllele": "C",
          "start": 12069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.12070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg4024Trp",
        "hgvsWellDefined": "NP_001278214.1:p.Arg4024Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645444179",
      "coordinates": [
        {
          "allele": "T",
          "end": 12070,
          "referenceAllele": "C",
          "start": 12069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.12070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Arg4024Trp",
        "hgvsWellDefined": "NP_001278232.1:p.Arg4024Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016686",
      "coordinates": [
        {
          "allele": "T",
          "end": 12064,
          "referenceAllele": "C",
          "start": 12063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.12064C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg4022Trp",
        "hgvsWellDefined": "NP_078858.4:p.Arg4022Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12163,
          "referenceAllele": "C",
          "start": 12162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.12070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Arg4024Trp",
        "hgvsWellDefined": "XP_011530538.1:p.Arg4024Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6972,
          "referenceAllele": "C",
          "start": 6971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.6841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Arg2281Trp",
        "hgvsWellDefined": "XP_011530539.1:p.Arg2281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13147,
          "referenceAllele": "C",
          "start": 13146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.12070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Arg4024Trp",
        "hgvsWellDefined": "XP_011530538.1:p.Arg4024Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7955,
          "referenceAllele": "C",
          "start": 7954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.6841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Arg2281Trp",
        "hgvsWellDefined": "XP_011530539.1:p.Arg2281Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792195",
      "coordinates": [
        {
          "allele": "T",
          "end": 13105,
          "referenceAllele": "C",
          "start": 13104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.12070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg4024Trp",
        "hgvsWellDefined": "NP_001278214.1:p.Arg4024Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645444179",
      "coordinates": [
        {
          "allele": "T",
          "end": 13105,
          "referenceAllele": "C",
          "start": 13104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.12070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Arg4024Trp",
        "hgvsWellDefined": "NP_001278232.1:p.Arg4024Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.12070C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.12070C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Arg4024Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Arg4024Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016686",
      "coordinates": [
        {
          "allele": "T",
          "end": 13099,
          "referenceAllele": "C",
          "start": 13098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.12064C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg4022Trp",
        "hgvsWellDefined": "NP_078858.4:p.Arg4022Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792195",
      "coordinates": [
        {
          "allele": "T",
          "end": 13105,
          "referenceAllele": "C",
          "start": 13104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.12070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg4024Trp",
        "hgvsWellDefined": "NP_001278214.1:p.Arg4024Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016686",
      "coordinates": [
        {
          "allele": "T",
          "end": 13099,
          "referenceAllele": "C",
          "start": 13098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.12064C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg4022Trp",
        "hgvsWellDefined": "NP_078858.4:p.Arg4022Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}