{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3933404",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431070[alleleid]",
        "alleleId": 431070,
        "preferredName": "NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437788",
        "RCV": [
          "RCV000501544"
        ],
        "variationId": 437788
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-99323304-C-T",
        "id": "6-99323304-C-T",
        "variant": "6:99323304 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99323304C>T?assembly=hg19",
        "id": "chr6:g.99323304C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98875428C>T?assembly=hg38",
        "id": "chr6:g.98875428C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767302112",
        "rs": 767302112
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-99323304-C-T?dataset=gnomad_r2_1",
        "id": "6-99323304-C-T",
        "variant": "6:99323304 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98875428-C-T?dataset=gnomad_r3",
        "id": "6-98875428-C-T",
        "variant": "6:98875428 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98875428-C-T?dataset=gnomad_r4",
        "id": "6-98875428-C-T",
        "variant": "6:98875428 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 98875428,
          "referenceAllele": "C",
          "start": 98875427
        }
      ],
      "hgvs": [
        "NC_000006.12:g.98875428C>T",
        "CM000668.2:g.98875428C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 99323304,
          "referenceAllele": "C",
          "start": 99323303
        }
      ],
      "hgvs": [
        "NC_000006.11:g.99323304C>T",
        "CM000668.1:g.99323304C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 99430025,
          "referenceAllele": "C",
          "start": 99430024
        }
      ],
      "hgvs": [
        "NC_000006.10:g.99430025C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77579,
          "referenceAllele": "G",
          "start": 77578
        }
      ],
      "hgvs": [
        "NG_033903.1:g.77579G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2138,
          "referenceAllele": "G",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.7:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Gln563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1689G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1689G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Gln563="
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Gln563="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000229971.2:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229971.1:p.Gln563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2118,
          "referenceAllele": "G",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.6:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Gln563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826614022",
      "coordinates": [
        {
          "allele": "A",
          "end": 2198,
          "referenceAllele": "G",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.1:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Gln563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723686",
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.4:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Gln563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.1:n.1734G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.1:c.1617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Gln539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "referenceAllele": "G",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.3:c.1617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Gln539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2012,
          "referenceAllele": "G",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010726.1:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866215.1:p.Gln563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "referenceAllele": "G",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010727.2:c.1617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866216.1:p.Gln539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2274,
          "referenceAllele": "G",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010728.1:c.963G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866217.1:p.Gln321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826614022",
      "coordinates": [
        {
          "allele": "A",
          "end": 2138,
          "referenceAllele": "G",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.2:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Gln563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1689G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1689G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Gln563="
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Gln563="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.1674G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723686",
      "coordinates": [
        {
          "allele": "A",
          "end": 2020,
          "referenceAllele": "G",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Gln563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}