Canonical Allele Identifier: CA126386
Gene: FGFR3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16355
ClinVar RCV Id: RCV000017765
dbSNP Id: rs121913113

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1806076G>A , CM000666.2:g.1806076G>A GRCh38
NC_000004.11:g.1807803G>A , CM000666.1:g.1807803G>A GRCh37
NC_000004.10:g.1777601G>A NCBI36
NG_012632.1:g.17765G>A , LRG_1021:g.17765G>A

Transcript Alleles

HGVS Amino-acid change
NM_000142.4:c.1862G>A , LRG_1021t1:c.1862G>A NP_000133.1:p.Arg621His
NM_001163213.1:c.1868G>A , LRG_1021t2:c.1868G>A NP_001156685.1:p.Arg623His
NM_022965.3:c.1526G>A VV NP_075254.1:p.Arg509His
XM_006713868.1:c.1874G>A XP_006713931.1:p.Arg625His
XM_006713869.1:c.1874G>A XP_006713932.1:p.Arg625His
XM_006713870.1:c.1871G>A XP_006713933.1:p.Arg624His
XM_006713871.1:c.1868G>A XP_006713934.1:p.Arg623His
XM_006713872.1:c.1865G>A XP_006713935.1:p.Arg622His
XM_006713873.1:c.1862G>A XP_006713936.1:p.Arg621His
XM_011513420.1:c.1868G>A XP_011511722.1:p.Arg623His
XM_011513422.1:c.1865G>A XP_011511724.1:p.Arg622His
NM_001354809.1:c.1865G>A VV NP_001341738.1:p.Arg622His
NM_001354810.1:c.1865G>A VV NP_001341739.1:p.Arg622His
NR_148971.1:n.2269G>A
ENST00000260795.6:c.1862G>A ENSP00000260795.2:p.Arg621His
ENST00000340107.8:c.1868G>A ENSP00000339824.4:p.Arg623His
ENST00000352904.5:c.1526G>A ENSP00000231803.1:p.Arg509His
ENST00000412135.6:c.1526G>A ENSP00000412903.2:p.Arg509His
ENST00000440486.6:c.1862G>A ENSP00000414914.2:p.Arg621His
ENST00000481110.6:c.1865G>A ENSP00000420533.2:p.Arg622His
ENST00000613647.4:c.*918G>A ENSP00000479472.1:p.=