{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16020683",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431069[alleleid]",
        "alleleId": 431069,
        "preferredName": "NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437483",
        "RCV": [
          "RCV000500228"
        ],
        "variationId": 437483
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99323295T>C?assembly=hg19",
        "id": "chr6:g.99323295T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98875419T>C?assembly=hg38",
        "id": "chr6:g.98875419T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554215959",
        "rs": 1554215959
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 98875419,
          "referenceAllele": "T",
          "start": 98875418
        }
      ],
      "hgvs": [
        "NC_000006.12:g.98875419T>C",
        "CM000668.2:g.98875419T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 99323295,
          "referenceAllele": "T",
          "start": 99323294
        }
      ],
      "hgvs": [
        "NC_000006.11:g.99323295T>C",
        "CM000668.1:g.99323295T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 99430016,
          "referenceAllele": "T",
          "start": 99430015
        }
      ],
      "hgvs": [
        "NC_000006.10:g.99430016T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77588,
          "referenceAllele": "A",
          "start": 77587
        }
      ],
      "hgvs": [
        "NG_033903.1:g.77588A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2147,
          "referenceAllele": "A",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.7:c.1698A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Ile566Met",
        "hgvsWellDefined": "ENSP00000358247.1:p.Ile566Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1698A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1698A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Ile566Met"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Ile566Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2089,
          "referenceAllele": "A",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000229971.2:c.1698A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229971.1:p.Ile566Met",
        "hgvsWellDefined": "ENSP00000229971.1:p.Ile566Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2127,
          "referenceAllele": "A",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.6:c.1698A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Ile566Met",
        "hgvsWellDefined": "ENSP00000358247.1:p.Ile566Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826614024",
      "coordinates": [
        {
          "allele": "G",
          "end": 2207,
          "referenceAllele": "A",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.1:c.1698A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Ile566Met",
        "hgvsWellDefined": "NP_001265645.1:p.Ile566Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460837",
      "coordinates": [
        {
          "allele": "G",
          "end": 2089,
          "referenceAllele": "A",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.4:c.1698A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Ile566Met",
        "hgvsWellDefined": "NP_036292.2:p.Ile566Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.1:n.1743A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2123,
          "referenceAllele": "A",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.1:c.1626A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Ile542Met",
        "hgvsWellDefined": "XP_005266987.1:p.Ile542Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "referenceAllele": "A",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.3:c.1626A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Ile542Met",
        "hgvsWellDefined": "XP_005266987.1:p.Ile542Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2021,
          "referenceAllele": "A",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010726.1:c.1698A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866215.1:p.Ile566Met",
        "hgvsWellDefined": "XP_016866215.1:p.Ile566Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1976,
          "referenceAllele": "A",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010727.2:c.1626A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866216.1:p.Ile542Met",
        "hgvsWellDefined": "XP_016866216.1:p.Ile542Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2283,
          "referenceAllele": "A",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010728.1:c.972A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866217.1:p.Ile324Met",
        "hgvsWellDefined": "XP_016866217.1:p.Ile324Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826614024",
      "coordinates": [
        {
          "allele": "G",
          "end": 2147,
          "referenceAllele": "A",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.2:c.1698A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Ile566Met",
        "hgvsWellDefined": "NP_001265645.1:p.Ile566Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1698A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1698A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Ile566Met"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Ile566Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1683,
          "referenceAllele": "A",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.1683A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460837",
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "A",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.1698A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Ile566Met",
        "hgvsWellDefined": "NP_036292.2:p.Ile566Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}