Canonical Allele Identifier: CA129944
Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 16327
dbSNP Id: rs28931614
gnomAD v2: 4-1806119-G-A
gnomAD v4: 4-1804392-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804392G>A , CM000666.2:g.1804392G>A GRCh38
NC_000004.11:g.1806119G>A , CM000666.1:g.1806119G>A GRCh37
NC_000004.10:g.1775917G>A NCBI36
NG_012632.1:g.16081G>A , LRG_1021:g.16081G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340107.9:c.1144G>A ENSP00000339824.4:p.Gly382Arg
ENST00000260795.8:c.*194G>A ENSP00000260795.3:n.*194G>A
ENST00000352904.6:c.931-432G>A ENSP00000231803.1:n.931-432G>A
ENST00000412135.7:c.1126G>A ENSP00000412903.3:p.Gly376Arg
ENST00000440486.8:c.1138G>A MANE Select ENSP00000414914.2:p.Gly380Arg
ENST00000481110.7:c.1138G>A ENSP00000420533.2:p.Gly380Arg
ENST00000643463.1:n.289G>A
ENST00000260795.6:c.1138G>A ENSP00000260795.2:p.Gly380Arg
ENST00000340107.8:c.1144G>A ENSP00000339824.4:p.Gly382Arg
ENST00000352904.5:c.931-432G>A ENSP00000231803.1:n.931-432G>A
ENST00000412135.6:c.931-432G>A ENSP00000412903.2:n.931-432G>A
ENST00000440486.6:c.1138G>A ENSP00000414914.2:p.Gly380Arg
ENST00000481110.6:c.1138G>A ENSP00000420533.2:p.Gly380Arg
ENST00000613647.4:c.*194G>A ENSP00000479472.1:n.*194G>A
NM_000142.4:c.1138G>A , LRG_1021t1:c.1138G>A NP_000133.1:p.Gly380Arg
NM_001163213.1:c.1144G>A , LRG_1021t2:c.1144G>A NP_001156685.1:p.Gly382Arg
NM_022965.3:c.931-432G>A NP_075254.1:n.931-432G>A
XM_006713868.1:c.1144G>A XP_006713931.1:p.Gly382Arg
XM_006713869.1:c.1144G>A XP_006713932.1:p.Gly382Arg
XM_006713870.1:c.1144G>A XP_006713933.1:p.Gly382Arg
XM_006713871.1:c.1144G>A XP_006713934.1:p.Gly382Arg
XM_006713872.1:c.1138G>A XP_006713935.1:p.Gly380Arg
XM_006713873.1:c.1138G>A XP_006713936.1:p.Gly380Arg
XM_011513420.1:c.1138G>A XP_011511722.1:p.Gly380Arg
XM_011513422.1:c.1138G>A XP_011511724.1:p.Gly380Arg
NM_001354809.1:c.1138G>A NP_001341738.1:p.Gly380Arg
NM_001354810.1:c.1138G>A NP_001341739.1:p.Gly380Arg
NR_148971.1:n.1545G>A
NM_001354809.2:c.1138G>A NP_001341738.1:p.Gly380Arg
NM_001354810.2:c.1138G>A NP_001341739.1:p.Gly380Arg
NR_148971.2:n.1564G>A
NM_000142.5:c.1138G>A MANE Select NP_000133.1:p.Gly380Arg
NM_001163213.2:c.1144G>A NP_001156685.1:p.Gly382Arg
NM_022965.4:c.931-432G>A NP_075254.1:n.931-432G>A