{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3073818",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=989908[alleleid]",
        "alleleId": 989908,
        "preferredName": "NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1012078",
        "RCV": [
          "RCV001309974",
          "RCV002543538",
          "RCV003883174",
          "RCV003938613"
        ],
        "variationId": 1012078
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126373425-A-G",
        "id": "4-126373425-A-G",
        "variant": "4:126373425 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126373425A>G?assembly=hg19",
        "id": "chr4:g.126373425A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125452270A>G?assembly=hg38",
        "id": "chr4:g.125452270A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/79909102",
        "rs": 79909102
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126373425-A-G?dataset=gnomad_r2_1",
        "id": "4-126373425-A-G",
        "variant": "4:126373425 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125452270-A-G?dataset=gnomad_r3",
        "id": "4-125452270-A-G",
        "variant": "4:125452270 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125452270-A-G?dataset=gnomad_r4",
        "id": "4-125452270-A-G",
        "variant": "4:125452270 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 125452270,
          "referenceAllele": "A",
          "start": 125452269
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125452270A>G",
        "CM000666.2:g.125452270A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 126373425,
          "referenceAllele": "A",
          "start": 126373424
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126373425A>G",
        "CM000666.1:g.126373425A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 126592875,
          "referenceAllele": "A",
          "start": 126592874
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126592875A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 140859,
          "referenceAllele": "A",
          "start": 140858
        }
      ],
      "hgvs": [
        "NG_033865.1:g.140859A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12295,
          "referenceAllele": "A",
          "start": 12294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.11260A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Ser3754Gly",
        "hgvsWellDefined": "ENSP00000377862.4:p.Ser3754Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.11260A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.11260A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Ser3754Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Ser3754Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7145,
          "referenceAllele": "A",
          "start": 7144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.6031A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Ser2011Gly",
        "hgvsWellDefined": "ENSP00000501473.2:p.Ser2011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6148,
          "referenceAllele": "A",
          "start": 6147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.6148A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Ser2050Gly",
        "hgvsWellDefined": "ENSP00000335169.5:p.Ser2050Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11267,
          "referenceAllele": "A",
          "start": 11266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.11254A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Ser3752Gly",
        "hgvsWellDefined": "ENSP00000377862.3:p.Ser3752Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792079",
      "coordinates": [
        {
          "allele": "G",
          "end": 11260,
          "referenceAllele": "A",
          "start": 11259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.11260A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Ser3754Gly",
        "hgvsWellDefined": "NP_001278214.1:p.Ser3754Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499246331",
      "coordinates": [
        {
          "allele": "G",
          "end": 11260,
          "referenceAllele": "A",
          "start": 11259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.11260A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Ser3754Gly",
        "hgvsWellDefined": "NP_001278232.1:p.Ser3754Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016501",
      "coordinates": [
        {
          "allele": "G",
          "end": 11254,
          "referenceAllele": "A",
          "start": 11253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.11254A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Ser3752Gly",
        "hgvsWellDefined": "NP_078858.4:p.Ser3752Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11353,
          "referenceAllele": "A",
          "start": 11352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.11260A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Ser3754Gly",
        "hgvsWellDefined": "XP_011530538.1:p.Ser3754Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6162,
          "referenceAllele": "A",
          "start": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.6031A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Ser2011Gly",
        "hgvsWellDefined": "XP_011530539.1:p.Ser2011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12337,
          "referenceAllele": "A",
          "start": 12336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.11260A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Ser3754Gly",
        "hgvsWellDefined": "XP_011530538.1:p.Ser3754Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7145,
          "referenceAllele": "A",
          "start": 7144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.6031A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Ser2011Gly",
        "hgvsWellDefined": "XP_011530539.1:p.Ser2011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792079",
      "coordinates": [
        {
          "allele": "G",
          "end": 12295,
          "referenceAllele": "A",
          "start": 12294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.11260A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Ser3754Gly",
        "hgvsWellDefined": "NP_001278214.1:p.Ser3754Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499246331",
      "coordinates": [
        {
          "allele": "G",
          "end": 12295,
          "referenceAllele": "A",
          "start": 12294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.11260A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Ser3754Gly",
        "hgvsWellDefined": "NP_001278232.1:p.Ser3754Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.11260A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.11260A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Ser3754Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Ser3754Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016501",
      "coordinates": [
        {
          "allele": "G",
          "end": 12289,
          "referenceAllele": "A",
          "start": 12288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.11254A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Ser3752Gly",
        "hgvsWellDefined": "NP_078858.4:p.Ser3752Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792079",
      "coordinates": [
        {
          "allele": "G",
          "end": 12295,
          "referenceAllele": "A",
          "start": 12294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.11260A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Ser3754Gly",
        "hgvsWellDefined": "NP_001278214.1:p.Ser3754Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016501",
      "coordinates": [
        {
          "allele": "G",
          "end": 12289,
          "referenceAllele": "A",
          "start": 12288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.11254A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Ser3752Gly",
        "hgvsWellDefined": "NP_078858.4:p.Ser3752Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}