{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3933614",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.813C>T (p.Leu271=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431238[alleleid]",
        "alleleId": 431238,
        "preferredName": "NM_001278716.2(FBXL4):c.813C>T (p.Leu271=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437637",
        "RCV": [
          "RCV000504047",
          "RCV002527317"
        ],
        "variationId": 437637
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-99365295-G-A",
        "id": "6-99365295-G-A",
        "variant": "6:99365295 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99365295G>A?assembly=hg19",
        "id": "chr6:g.99365295G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98917419G>A?assembly=hg38",
        "id": "chr6:g.98917419G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146999462",
        "rs": 146999462
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-99365295-G-A?dataset=gnomad_r2_1",
        "id": "6-99365295-G-A",
        "variant": "6:99365295 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98917419-G-A?dataset=gnomad_r3",
        "id": "6-98917419-G-A",
        "variant": "6:98917419 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98917419-G-A?dataset=gnomad_r4",
        "id": "6-98917419-G-A",
        "variant": "6:98917419 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 98917419,
          "referenceAllele": "G",
          "start": 98917418
        }
      ],
      "hgvs": [
        "NC_000006.12:g.98917419G>A",
        "CM000668.2:g.98917419G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 99365295,
          "referenceAllele": "G",
          "start": 99365294
        }
      ],
      "hgvs": [
        "NC_000006.11:g.99365295G>A",
        "CM000668.1:g.99365295G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 99472016,
          "referenceAllele": "G",
          "start": 99472015
        }
      ],
      "hgvs": [
        "NC_000006.10:g.99472016G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35588,
          "referenceAllele": "C",
          "start": 35587
        }
      ],
      "hgvs": [
        "NG_033903.1:g.35588C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.7:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.813C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.813C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Leu271="
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Leu271="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000229971.2:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229971.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.6:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826613831",
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.1:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723636",
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.4:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "endIntronDirection": "+",
          "endIntronOffset": 9058,
          "referenceAllele": "C",
          "start": 903,
          "startIntronDirection": "+",
          "startIntronOffset": 9057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.1:n.903+9058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "endIntronDirection": "+",
          "endIntronOffset": 9058,
          "referenceAllele": "C",
          "start": 903,
          "startIntronDirection": "+",
          "startIntronOffset": 9057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103837.1:n.903+9058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.1:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_011535748.1:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534050.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.3:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_011535748.3:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534050.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010726.1:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866215.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010727.2:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866216.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010728.1:c.87C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866217.1:p.Leu29="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826613831",
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.2:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.813C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.813C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Leu271="
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Leu271="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 9058,
          "referenceAllele": "C",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 9057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.843+9058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 9058,
          "referenceAllele": "C",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 9057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103837.2:n.843+9058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723636",
      "coordinates": [
        {
          "allele": "T",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.813C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Leu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}