{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3073702",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513417[alleleid]",
        "alleleId": 513417,
        "preferredName": "NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522864",
        "RCV": [
          "RCV000626045",
          "RCV001418858"
        ],
        "variationId": 522864
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126372725-G-A",
        "id": "4-126372725-G-A",
        "variant": "4:126372725 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126372725G>A?assembly=hg19",
        "id": "chr4:g.126372725G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125451570G>A?assembly=hg38",
        "id": "chr4:g.125451570G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144506470",
        "rs": 144506470
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126372725-G-A?dataset=gnomad_r2_1",
        "id": "4-126372725-G-A",
        "variant": "4:126372725 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125451570-G-A?dataset=gnomad_r3",
        "id": "4-125451570-G-A",
        "variant": "4:125451570 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125451570-G-A?dataset=gnomad_r4",
        "id": "4-125451570-G-A",
        "variant": "4:125451570 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 125451570,
          "referenceAllele": "G",
          "start": 125451569
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125451570G>A",
        "CM000666.2:g.125451570G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 126372725,
          "referenceAllele": "G",
          "start": 126372724
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126372725G>A",
        "CM000666.1:g.126372725G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 126592175,
          "referenceAllele": "G",
          "start": 126592174
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126592175G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140159,
          "referenceAllele": "G",
          "start": 140158
        }
      ],
      "hgvs": [
        "NG_033865.1:g.140159G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11595,
          "referenceAllele": "G",
          "start": 11594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.10560G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Met3520Ile",
        "hgvsWellDefined": "ENSP00000377862.4:p.Met3520Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.10560G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.10560G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Met3520Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Met3520Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6445,
          "referenceAllele": "G",
          "start": 6444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.5331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Met1777Ile",
        "hgvsWellDefined": "ENSP00000501473.2:p.Met1777Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5448,
          "referenceAllele": "G",
          "start": 5447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.5448G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Met1816Ile",
        "hgvsWellDefined": "ENSP00000335169.5:p.Met1816Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10567,
          "referenceAllele": "G",
          "start": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.10554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Met3518Ile",
        "hgvsWellDefined": "ENSP00000377862.3:p.Met3518Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791968",
      "coordinates": [
        {
          "allele": "A",
          "end": 10560,
          "referenceAllele": "G",
          "start": 10559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.10560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Met3520Ile",
        "hgvsWellDefined": "NP_001278214.1:p.Met3520Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658819032",
      "coordinates": [
        {
          "allele": "A",
          "end": 10560,
          "referenceAllele": "G",
          "start": 10559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.10560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Met3520Ile",
        "hgvsWellDefined": "NP_001278232.1:p.Met3520Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016336",
      "coordinates": [
        {
          "allele": "A",
          "end": 10554,
          "referenceAllele": "G",
          "start": 10553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.10554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Met3518Ile",
        "hgvsWellDefined": "NP_078858.4:p.Met3518Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10653,
          "referenceAllele": "G",
          "start": 10652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.10560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Met3520Ile",
        "hgvsWellDefined": "XP_011530538.1:p.Met3520Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5462,
          "referenceAllele": "G",
          "start": 5461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.5331G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Met1777Ile",
        "hgvsWellDefined": "XP_011530539.1:p.Met1777Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11637,
          "referenceAllele": "G",
          "start": 11636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.10560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Met3520Ile",
        "hgvsWellDefined": "XP_011530538.1:p.Met3520Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6445,
          "referenceAllele": "G",
          "start": 6444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.5331G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Met1777Ile",
        "hgvsWellDefined": "XP_011530539.1:p.Met1777Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791968",
      "coordinates": [
        {
          "allele": "A",
          "end": 11595,
          "referenceAllele": "G",
          "start": 11594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.10560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Met3520Ile",
        "hgvsWellDefined": "NP_001278214.1:p.Met3520Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658819032",
      "coordinates": [
        {
          "allele": "A",
          "end": 11595,
          "referenceAllele": "G",
          "start": 11594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.10560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Met3520Ile",
        "hgvsWellDefined": "NP_001278232.1:p.Met3520Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.10560G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.10560G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Met3520Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Met3520Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016336",
      "coordinates": [
        {
          "allele": "A",
          "end": 11589,
          "referenceAllele": "G",
          "start": 11588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.10554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Met3518Ile",
        "hgvsWellDefined": "NP_078858.4:p.Met3518Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826791968",
      "coordinates": [
        {
          "allele": "A",
          "end": 11595,
          "referenceAllele": "G",
          "start": 11594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.10560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Met3520Ile",
        "hgvsWellDefined": "NP_001278214.1:p.Met3520Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016336",
      "coordinates": [
        {
          "allele": "A",
          "end": 11589,
          "referenceAllele": "G",
          "start": 11588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.10554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Met3518Ile",
        "hgvsWellDefined": "NP_078858.4:p.Met3518Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}