{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3073041",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.6976A>G (p.Thr2326Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1642084[alleleid]",
        "alleleId": 1642084,
        "preferredName": "NM_001291303.3(FAT4):c.6976A>G (p.Thr2326Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1590190",
        "RCV": [
          "RCV002101389",
          "RCV003339926"
        ],
        "variationId": 1590190
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126337735-A-G",
        "id": "4-126337735-A-G",
        "variant": "4:126337735 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126337735A>G?assembly=hg19",
        "id": "chr4:g.126337735A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125416580A>G?assembly=hg38",
        "id": "chr4:g.125416580A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757774648",
        "rs": 757774648
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126337735-A-G?dataset=gnomad_r2_1",
        "id": "4-126337735-A-G",
        "variant": "4:126337735 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125416580-A-G?dataset=gnomad_r3",
        "id": "4-125416580-A-G",
        "variant": "4:125416580 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125416580-A-G?dataset=gnomad_r4",
        "id": "4-125416580-A-G",
        "variant": "4:125416580 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 125416580,
          "referenceAllele": "A",
          "start": 125416579
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125416580A>G",
        "CM000666.2:g.125416580A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 126337735,
          "referenceAllele": "A",
          "start": 126337734
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126337735A>G",
        "CM000666.1:g.126337735A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 126557185,
          "referenceAllele": "A",
          "start": 126557184
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126557185A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 105169,
          "referenceAllele": "A",
          "start": 105168
        }
      ],
      "hgvs": [
        "NG_033865.1:g.105169A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8011,
          "referenceAllele": "A",
          "start": 8010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Thr2326Ala",
        "hgvsWellDefined": "ENSP00000377862.4:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.6976A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.6976A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Thr2326Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Thr2326Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2861,
          "referenceAllele": "A",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.1747A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Thr583Ala",
        "hgvsWellDefined": "ENSP00000501473.2:p.Thr583Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1870,
          "referenceAllele": "A",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.1870A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Thr624Ala",
        "hgvsWellDefined": "ENSP00000335169.5:p.Thr624Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6989,
          "referenceAllele": "A",
          "start": 6988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Thr2326Ala",
        "hgvsWellDefined": "ENSP00000377862.3:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791430",
      "coordinates": [
        {
          "allele": "G",
          "end": 6976,
          "referenceAllele": "A",
          "start": 6975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Thr2326Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793837",
      "coordinates": [
        {
          "allele": "G",
          "end": 6976,
          "referenceAllele": "A",
          "start": 6975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Thr2326Ala",
        "hgvsWellDefined": "NP_001278232.1:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573285032",
      "coordinates": [
        {
          "allele": "G",
          "end": 6976,
          "referenceAllele": "A",
          "start": 6975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Thr2326Ala",
        "hgvsWellDefined": "NP_078858.4:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7069,
          "referenceAllele": "A",
          "start": 7068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Thr2326Ala",
        "hgvsWellDefined": "XP_011530538.1:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1878,
          "referenceAllele": "A",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.1747A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Thr583Ala",
        "hgvsWellDefined": "XP_011530539.1:p.Thr583Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8053,
          "referenceAllele": "A",
          "start": 8052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Thr2326Ala",
        "hgvsWellDefined": "XP_011530538.1:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2861,
          "referenceAllele": "A",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.1747A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Thr583Ala",
        "hgvsWellDefined": "XP_011530539.1:p.Thr583Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791430",
      "coordinates": [
        {
          "allele": "G",
          "end": 8011,
          "referenceAllele": "A",
          "start": 8010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Thr2326Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826793837",
      "coordinates": [
        {
          "allele": "G",
          "end": 8011,
          "referenceAllele": "A",
          "start": 8010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Thr2326Ala",
        "hgvsWellDefined": "NP_001278232.1:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.6976A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.6976A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Thr2326Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Thr2326Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573285032",
      "coordinates": [
        {
          "allele": "G",
          "end": 8011,
          "referenceAllele": "A",
          "start": 8010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Thr2326Ala",
        "hgvsWellDefined": "NP_078858.4:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791430",
      "coordinates": [
        {
          "allele": "G",
          "end": 8011,
          "referenceAllele": "A",
          "start": 8010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Thr2326Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573285032",
      "coordinates": [
        {
          "allele": "G",
          "end": 8011,
          "referenceAllele": "A",
          "start": 8010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.6976A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Thr2326Ala",
        "hgvsWellDefined": "NP_078858.4:p.Thr2326Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}