{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3074164",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1426934",
        "active": true,
        "id": "COSM1426934"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1426935",
        "active": true,
        "id": "COSM1426935"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425597[alleleid]",
        "alleleId": 425597,
        "preferredName": "NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432221",
        "RCV": [
          "RCV000498993",
          "RCV002524078",
          "RCV001333189"
        ],
        "variationId": 432221
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126402718-G-A",
        "id": "4-126402718-G-A",
        "variant": "4:126402718 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126402718G>A?assembly=hg19",
        "id": "chr4:g.126402718G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125481563G>A?assembly=hg38",
        "id": "chr4:g.125481563G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148170326",
        "rs": 148170326
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126402718-G-A?dataset=gnomad_r2_1",
        "id": "4-126402718-G-A",
        "variant": "4:126402718 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125481563-G-A?dataset=gnomad_r3",
        "id": "4-125481563-G-A",
        "variant": "4:125481563 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125481563-G-A?dataset=gnomad_r4",
        "id": "4-125481563-G-A",
        "variant": "4:125481563 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 125481563,
          "referenceAllele": "G",
          "start": 125481562
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125481563G>A",
        "CM000666.2:g.125481563G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 126402718,
          "referenceAllele": "G",
          "start": 126402717
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126402718G>A",
        "CM000666.1:g.126402718G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 126622168,
          "referenceAllele": "G",
          "start": 126622167
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126622168G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170152,
          "referenceAllele": "G",
          "start": 170151
        }
      ],
      "hgvs": [
        "NG_033865.1:g.170152G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13682,
          "referenceAllele": "G",
          "start": 13681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.12647G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Arg4216His",
        "hgvsWellDefined": "ENSP00000377862.4:p.Arg4216His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.12647G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.12647G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Arg4216His"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Arg4216His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8532,
          "referenceAllele": "G",
          "start": 8531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.7418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Arg2473His",
        "hgvsWellDefined": "ENSP00000501473.2:p.Arg2473His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7364,
          "referenceAllele": "G",
          "start": 7363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.7364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Arg2455His",
        "hgvsWellDefined": "ENSP00000335169.5:p.Arg2455His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12654,
          "referenceAllele": "G",
          "start": 12653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.12641G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Arg4214His",
        "hgvsWellDefined": "ENSP00000377862.3:p.Arg4214His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792287",
      "coordinates": [
        {
          "allele": "A",
          "end": 12647,
          "referenceAllele": "G",
          "start": 12646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.12647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg4216His",
        "hgvsWellDefined": "NP_001278214.1:p.Arg4216His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645444182",
      "coordinates": [
        {
          "allele": "A",
          "end": 12647,
          "referenceAllele": "G",
          "start": 12646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.12647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Arg4216His",
        "hgvsWellDefined": "NP_001278232.1:p.Arg4216His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016853",
      "coordinates": [
        {
          "allele": "A",
          "end": 12641,
          "referenceAllele": "G",
          "start": 12640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.12641G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg4214His",
        "hgvsWellDefined": "NP_078858.4:p.Arg4214His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12740,
          "referenceAllele": "G",
          "start": 12739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.12647G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Arg4216His",
        "hgvsWellDefined": "XP_011530538.1:p.Arg4216His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7549,
          "referenceAllele": "G",
          "start": 7548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.7418G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Arg2473His",
        "hgvsWellDefined": "XP_011530539.1:p.Arg2473His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13724,
          "referenceAllele": "G",
          "start": 13723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.12647G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Arg4216His",
        "hgvsWellDefined": "XP_011530538.1:p.Arg4216His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8532,
          "referenceAllele": "G",
          "start": 8531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.7418G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Arg2473His",
        "hgvsWellDefined": "XP_011530539.1:p.Arg2473His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792287",
      "coordinates": [
        {
          "allele": "A",
          "end": 13682,
          "referenceAllele": "G",
          "start": 13681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.12647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg4216His",
        "hgvsWellDefined": "NP_001278214.1:p.Arg4216His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645444182",
      "coordinates": [
        {
          "allele": "A",
          "end": 13682,
          "referenceAllele": "G",
          "start": 13681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.12647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Arg4216His",
        "hgvsWellDefined": "NP_001278232.1:p.Arg4216His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.12647G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.12647G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Arg4216His"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Arg4216His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016853",
      "coordinates": [
        {
          "allele": "A",
          "end": 13676,
          "referenceAllele": "G",
          "start": 13675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.12641G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg4214His",
        "hgvsWellDefined": "NP_078858.4:p.Arg4214His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792287",
      "coordinates": [
        {
          "allele": "A",
          "end": 13682,
          "referenceAllele": "G",
          "start": 13681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.12647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Arg4216His",
        "hgvsWellDefined": "NP_001278214.1:p.Arg4216His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016853",
      "coordinates": [
        {
          "allele": "A",
          "end": 13676,
          "referenceAllele": "G",
          "start": 13675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.12641G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Arg4214His",
        "hgvsWellDefined": "NP_078858.4:p.Arg4214His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}