{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA071916",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=223616[alleleid]",
        "alleleId": 223616,
        "preferredName": "NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/221921",
        "RCV": [
          "RCV000207378",
          "RCV001497990"
        ],
        "variationId": 221921
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126237697-A-C",
        "id": "4-126237697-A-C",
        "variant": "4:126237697 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126237697A>C?assembly=hg19",
        "id": "chr4:g.126237697A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125316542A>C?assembly=hg38",
        "id": "chr4:g.125316542A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200221425",
        "rs": 200221425
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126237697-A-C?dataset=gnomad_r2_1",
        "id": "4-126237697-A-C",
        "variant": "4:126237697 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125316542-A-C?dataset=gnomad_r3",
        "id": "4-125316542-A-C",
        "variant": "4:125316542 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125316542-A-C?dataset=gnomad_r4",
        "id": "4-125316542-A-C",
        "variant": "4:125316542 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 125316542,
          "referenceAllele": "A",
          "start": 125316541
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125316542A>C",
        "CM000666.2:g.125316542A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 126237697,
          "referenceAllele": "A",
          "start": 126237696
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126237697A>C",
        "CM000666.1:g.126237697A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 126457147,
          "referenceAllele": "A",
          "start": 126457146
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126457147A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "A",
          "start": 5130
        }
      ],
      "hgvs": [
        "NG_033865.1:g.5131A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "A",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Glu44Ala",
        "hgvsWellDefined": "ENSP00000377862.4:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.131A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.131A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Glu44Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Glu44Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "endIntronDirection": "+",
          "endIntronOffset": 565,
          "referenceAllele": "A",
          "start": 1060,
          "startIntronDirection": "+",
          "startIntronOffset": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.-55+565A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:n.-55+565A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 144,
          "referenceAllele": "A",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Glu44Ala",
        "hgvsWellDefined": "ENSP00000377862.3:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA071922",
      "coordinates": [
        {
          "allele": "C",
          "end": 131,
          "referenceAllele": "A",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Glu44Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA071927",
      "coordinates": [
        {
          "allele": "C",
          "end": 131,
          "referenceAllele": "A",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Glu44Ala",
        "hgvsWellDefined": "NP_001278232.1:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077064",
      "coordinates": [
        {
          "allele": "C",
          "end": 131,
          "referenceAllele": "A",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Glu44Ala",
        "hgvsWellDefined": "NP_078858.4:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Glu44Ala",
        "hgvsWellDefined": "XP_011530538.1:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77,
          "endIntronDirection": "+",
          "endIntronOffset": 565,
          "referenceAllele": "A",
          "start": 77,
          "startIntronDirection": "+",
          "startIntronOffset": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.-55+565A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:n.-55+565A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Glu44Ala",
        "hgvsWellDefined": "XP_011530538.1:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "endIntronDirection": "+",
          "endIntronOffset": 565,
          "referenceAllele": "A",
          "start": 1060,
          "startIntronDirection": "+",
          "startIntronOffset": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.-55+565A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:n.-55+565A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA071922",
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "A",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Glu44Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA071927",
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "A",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Glu44Ala",
        "hgvsWellDefined": "NP_001278232.1:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.131A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.131A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Glu44Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Glu44Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077064",
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "A",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Glu44Ala",
        "hgvsWellDefined": "NP_078858.4:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA071922",
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "A",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Glu44Ala",
        "hgvsWellDefined": "NP_001278214.1:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077064",
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "A",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.131A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Glu44Ala",
        "hgvsWellDefined": "NP_078858.4:p.Glu44Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}