{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144893",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76996[alleleid]",
        "alleleId": 76996,
        "preferredName": "NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66094",
        "RCV": [
          "RCV000056331"
        ],
        "variationId": 66094
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99323299T>C?assembly=hg19",
        "id": "chr6:g.99323299T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98875423T>C?assembly=hg38",
        "id": "chr6:g.98875423T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123062",
        "rs": 398123062
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98875423-T-C?dataset=gnomad_r4",
        "id": "6-98875423-T-C",
        "variant": "6:98875423 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 98875423,
          "referenceAllele": "T",
          "start": 98875422
        }
      ],
      "hgvs": [
        "NC_000006.12:g.98875423T>C",
        "CM000668.2:g.98875423T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 99323299,
          "referenceAllele": "T",
          "start": 99323298
        }
      ],
      "hgvs": [
        "NC_000006.11:g.99323299T>C",
        "CM000668.1:g.99323299T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 99430020,
          "referenceAllele": "T",
          "start": 99430019
        }
      ],
      "hgvs": [
        "NC_000006.10:g.99430020T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77584,
          "referenceAllele": "A",
          "start": 77583
        }
      ],
      "hgvs": [
        "NG_033903.1:g.77584A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "referenceAllele": "A",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.7:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Asp565Gly",
        "hgvsWellDefined": "ENSP00000358247.1:p.Asp565Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1694A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1694A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Asp565Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Asp565Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2085,
          "referenceAllele": "A",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000229971.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229971.1:p.Asp565Gly",
        "hgvsWellDefined": "ENSP00000229971.1:p.Asp565Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2123,
          "referenceAllele": "A",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.6:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Asp565Gly",
        "hgvsWellDefined": "ENSP00000358247.1:p.Asp565Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113678",
      "coordinates": [
        {
          "allele": "G",
          "end": 2203,
          "referenceAllele": "A",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Asp565Gly",
        "hgvsWellDefined": "NP_001265645.1:p.Asp565Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144894",
      "coordinates": [
        {
          "allele": "G",
          "end": 2085,
          "referenceAllele": "A",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.4:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Asp565Gly",
        "hgvsWellDefined": "NP_036292.2:p.Asp565Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1739,
          "referenceAllele": "A",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.1:n.1739A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2119,
          "referenceAllele": "A",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.1:c.1622A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Asp541Gly",
        "hgvsWellDefined": "XP_005266987.1:p.Asp541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "A",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.3:c.1622A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Asp541Gly",
        "hgvsWellDefined": "XP_005266987.1:p.Asp541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2017,
          "referenceAllele": "A",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010726.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866215.1:p.Asp565Gly",
        "hgvsWellDefined": "XP_016866215.1:p.Asp565Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1972,
          "referenceAllele": "A",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010727.2:c.1622A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866216.1:p.Asp541Gly",
        "hgvsWellDefined": "XP_016866216.1:p.Asp541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2279,
          "referenceAllele": "A",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010728.1:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866217.1:p.Asp323Gly",
        "hgvsWellDefined": "XP_016866217.1:p.Asp323Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113678",
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "referenceAllele": "A",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Asp565Gly",
        "hgvsWellDefined": "NP_001265645.1:p.Asp565Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1694A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1694A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Asp565Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Asp565Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "A",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.1679A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144894",
      "coordinates": [
        {
          "allele": "G",
          "end": 2025,
          "referenceAllele": "A",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Asp565Gly",
        "hgvsWellDefined": "NP_036292.2:p.Asp565Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}