{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3072971",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.6729C>T (p.Ser2243=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4896771"
      },
      {
        "active": false,
        "id": "COSM4896772"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1553566[alleleid]",
        "alleleId": 1553566,
        "preferredName": "NM_001291303.3(FAT4):c.6729C>T (p.Ser2243=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1577530",
        "RCV": [
          "RCV002081016",
          "RCV003893233"
        ],
        "variationId": 1577530
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126336847-C-T",
        "id": "4-126336847-C-T",
        "variant": "4:126336847 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126336847C>T?assembly=hg19",
        "id": "chr4:g.126336847C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125415692C>T?assembly=hg38",
        "id": "chr4:g.125415692C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368872163",
        "rs": 368872163
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126336847-C-T?dataset=gnomad_r2_1",
        "id": "4-126336847-C-T",
        "variant": "4:126336847 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125415692-C-T?dataset=gnomad_r3",
        "id": "4-125415692-C-T",
        "variant": "4:125415692 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125415692-C-T?dataset=gnomad_r4",
        "id": "4-125415692-C-T",
        "variant": "4:125415692 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 125415692,
          "referenceAllele": "C",
          "start": 125415691
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125415692C>T",
        "CM000666.2:g.125415692C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 126336847,
          "referenceAllele": "C",
          "start": 126336846
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126336847C>T",
        "CM000666.1:g.126336847C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 126556297,
          "referenceAllele": "C",
          "start": 126556296
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126556297C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104281,
          "referenceAllele": "C",
          "start": 104280
        }
      ],
      "hgvs": [
        "NG_033865.1:g.104281C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7764,
          "referenceAllele": "C",
          "start": 7763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.6729C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.6729C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Ser2243="
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Ser2243="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2614,
          "referenceAllele": "C",
          "start": 2613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.1500C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Ser500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1623,
          "referenceAllele": "C",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.1623C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Ser541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6742,
          "referenceAllele": "C",
          "start": 6741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791398",
      "coordinates": [
        {
          "allele": "T",
          "end": 6729,
          "referenceAllele": "C",
          "start": 6728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793806",
      "coordinates": [
        {
          "allele": "T",
          "end": 6729,
          "referenceAllele": "C",
          "start": 6728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830015353",
      "coordinates": [
        {
          "allele": "T",
          "end": 6729,
          "referenceAllele": "C",
          "start": 6728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6822,
          "referenceAllele": "C",
          "start": 6821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.1500C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Ser500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7806,
          "referenceAllele": "C",
          "start": 7805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2614,
          "referenceAllele": "C",
          "start": 2613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.1500C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Ser500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791398",
      "coordinates": [
        {
          "allele": "T",
          "end": 7764,
          "referenceAllele": "C",
          "start": 7763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793806",
      "coordinates": [
        {
          "allele": "T",
          "end": 7764,
          "referenceAllele": "C",
          "start": 7763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.6729C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.6729C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Ser2243="
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Ser2243="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830015353",
      "coordinates": [
        {
          "allele": "T",
          "end": 7764,
          "referenceAllele": "C",
          "start": 7763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791398",
      "coordinates": [
        {
          "allele": "T",
          "end": 7764,
          "referenceAllele": "C",
          "start": 7763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830015353",
      "coordinates": [
        {
          "allele": "T",
          "end": 7764,
          "referenceAllele": "C",
          "start": 7763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.6729C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Ser2243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}