Canonical Allele Identifier: CA355981134
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs2108802359

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805431G>C , CM000666.2:g.1805431G>C GRCh38
NC_000004.11:g.1807158G>C , CM000666.1:g.1807158G>C GRCh37
NC_000004.10:g.1776956G>C NCBI36
NG_012632.1:g.17120G>C , LRG_1021:g.17120G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1495G>C ENSP00000339824.4:p.Asp499His
ENST00000260795.8:c.*545G>C ENSP00000260795.3:n.*545G>C
ENST00000352904.6:c.1153G>C ENSP00000231803.1:p.Asp385His
ENST00000412135.7:c.1477G>C ENSP00000412903.3:p.Asp493His
ENST00000440486.8:c.1489G>C MANE Select ENSP00000414914.2:p.Asp497His
ENST00000481110.7:c.1492G>C ENSP00000420533.2:p.Asp498His
ENST00000260795.6:c.1489G>C ENSP00000260795.2:p.Asp497His
ENST00000340107.8:c.1495G>C ENSP00000339824.4:p.Asp499His
ENST00000352904.5:c.1153G>C ENSP00000231803.1:p.Asp385His
ENST00000412135.6:c.1153G>C ENSP00000412903.2:p.Asp385His
ENST00000440486.6:c.1489G>C ENSP00000414914.2:p.Asp497His
ENST00000469068.1:n.555G>C
ENST00000481110.6:c.1492G>C ENSP00000420533.2:p.Asp498His
ENST00000613647.4:c.*545G>C ENSP00000479472.1:n.*545G>C
NM_000142.4:c.1489G>C , LRG_1021t1:c.1489G>C NP_000133.1:p.Asp497His
NM_001163213.1:c.1495G>C , LRG_1021t2:c.1495G>C NP_001156685.1:p.Asp499His
NM_022965.3:c.1153G>C NP_075254.1:p.Asp385His
XM_006713868.1:c.1501G>C XP_006713931.1:p.Asp501His
XM_006713869.1:c.1501G>C XP_006713932.1:p.Asp501His
XM_006713870.1:c.1498G>C XP_006713933.1:p.Asp500His
XM_006713871.1:c.1495G>C XP_006713934.1:p.Asp499His
XM_006713872.1:c.1492G>C XP_006713935.1:p.Asp498His
XM_006713873.1:c.1489G>C XP_006713936.1:p.Asp497His
XM_011513420.1:c.1495G>C XP_011511722.1:p.Asp499His
XM_011513422.1:c.1492G>C XP_011511724.1:p.Asp498His
NM_001354809.1:c.1492G>C NP_001341738.1:p.Asp498His
NM_001354810.1:c.1492G>C NP_001341739.1:p.Asp498His
NR_148971.1:n.1896G>C
NM_001354809.2:c.1492G>C NP_001341738.1:p.Asp498His
NM_001354810.2:c.1492G>C NP_001341739.1:p.Asp498His
NR_148971.2:n.1915G>C
NM_000142.5:c.1489G>C MANE Select NP_000133.1:p.Asp497His
NM_001163213.2:c.1495G>C NP_001156685.1:p.Asp499His
NM_022965.4:c.1153G>C NP_075254.1:p.Asp385His