{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2809917",
  "communityStandardTitle": [
    "NM_000142.5(FGFR3):c.666C>T (p.Asp222=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273630[alleleid]",
        "alleleId": 273630,
        "preferredName": "NM_000142.5(FGFR3):c.666C>T (p.Asp222=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289393",
        "RCV": [
          "RCV000367509",
          "RCV000726316"
        ],
        "variationId": 289393
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-1803397-C-T",
        "id": "4-1803397-C-T",
        "variant": "4:1803397 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1803397C>T?assembly=hg19",
        "id": "chr4:g.1803397C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1801670C>T?assembly=hg38",
        "id": "chr4:g.1801670C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201081464",
        "rs": 201081464
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1803397-C-T?dataset=gnomad_r2_1",
        "id": "4-1803397-C-T",
        "variant": "4:1803397 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1801670-C-T?dataset=gnomad_r3",
        "id": "4-1801670-C-T",
        "variant": "4:1801670 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1801670-C-T?dataset=gnomad_r4",
        "id": "4-1801670-C-T",
        "variant": "4:1801670 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 1801670,
          "referenceAllele": "C",
          "start": 1801669
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1801670C>T",
        "CM000666.2:g.1801670C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 1803397,
          "referenceAllele": "C",
          "start": 1803396
        }
      ],
      "hgvs": [
        "NC_000004.11:g.1803397C>T",
        "CM000666.1:g.1803397C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 1773195,
          "referenceAllele": "C",
          "start": 1773194
        }
      ],
      "hgvs": [
        "NC_000004.10:g.1773195C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13359,
          "referenceAllele": "C",
          "start": 13358
        }
      ],
      "hgvs": [
        "NG_012632.1:g.13359C>T",
        "LRG_1021:g.13359C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.9:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.8:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.3:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.6:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.7:c.654C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.3:p.Asp218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.8:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.666C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.666C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Asp222="
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Asp222="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.7:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000260795.6:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260795.2:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000340107.8:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339824.4:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000352904.5:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231803.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000412135.6:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412903.2:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000440486.6:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414914.2:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42,
          "referenceAllele": "C",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000474521.1:n.42C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000481110.6:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420533.2:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000507588.1:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427289.1:p.Asp42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "ENST00000613647.4:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479472.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825061692",
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.4:c.666C>T",
        "LRG_1021t1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825959704",
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.1:c.666C>T",
        "LRG_1021t2:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830004552",
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.3:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713868.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713931.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713869.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713932.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713870.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713933.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713871.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713934.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713872.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713935.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_006713873.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713936.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513420.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511722.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "XM_011513422.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511724.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937663",
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938324",
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.1:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.1:n.922C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827937663",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354809.2:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341738.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827938324",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001354810.2:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341739.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.2:n.941C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825061692",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.5:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000133.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.666C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000142.5:c.666C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414914.2:p.Asp222="
          },
          "RefSeq": {
            "hgvs": "NP_000133.1:p.Asp222="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825959704",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.2:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830004552",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.4:c.666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728610"
    }
  ],
  "type": "nucleotide"
}