Canonical Allele Identifier: CA357254

Gene: FGFR3

Linked Data

• PubMed: PMID:16411219

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.[1804384T>G;1804392G>A] , CM000666.2:g.[1804384T>G;1804392G>A]	GRCh38
NC_000004.11:g.[1806111T>G;1806119G>A] , CM000666.1:g.[1806111T>G;1806119G>A]	GRCh37
NC_000004.10:g.[1775909T>G;1775917G>A]	NCBI36
NG_012632.1:g.[16073T>G;16081G>A] , LRG_1021:g.[16073T>G;16081G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.[1136T>G;1144G>A]	ENSP00000339824.4:p.[Leu379Arg;Gly382Arg]
ENST00000260795.8:c.[*186T>G;*194G>A]	ENSP00000260795.3:n.[*186T>G;*194G>A]
ENST00000352904.6:c.[931-440T>G;931-432G>A]	ENSP00000231803.1:n.[931-440T>G;931-432G>A]
ENST00000412135.7:c.[1118T>G;1126G>A]	ENSP00000412903.3:p.[Leu373Arg;Gly376Arg]
ENST00000440486.8:c.[1130T>G;1138G>A] MANE Select	ENSP00000414914.2:p.[Leu377Arg;Gly380Arg]
ENST00000481110.7:c.[1130T>G;1138G>A]	ENSP00000420533.2:p.[Leu377Arg;Gly380Arg]
ENST00000643463.1:n.[281T>G;289G>A]
ENST00000260795.6:c.[1130T>G;1138G>A]	ENSP00000260795.2:p.[Leu377Arg;Gly380Arg]
ENST00000340107.8:c.[1136T>G;1144G>A]	ENSP00000339824.4:p.[Leu379Arg;Gly382Arg]
ENST00000352904.5:c.[931-440T>G;931-432G>A]	ENSP00000231803.1:n.[931-440T>G;931-432G>A]
ENST00000412135.6:c.[931-440T>G;931-432G>A]	ENSP00000412903.2:n.[931-440T>G;931-432G>A]
ENST00000440486.6:c.[1130T>G;1138G>A]	ENSP00000414914.2:p.[Leu377Arg;Gly380Arg]
ENST00000481110.6:c.[1130T>G;1138G>A]	ENSP00000420533.2:p.[Leu377Arg;Gly380Arg]
ENST00000613647.4:c.[*186T>G;*194G>A]	ENSP00000479472.1:n.[*186T>G;*194G>A]
NM_000142.4:c.[1130T>G;1138G>A] , LRG_1021t1:c.[1130T>G;1138G>A]	NP_000133.1:p.[Leu377Arg;Gly380Arg]
NM_001163213.1:c.[1136T>G;1144G>A] , LRG_1021t2:c.[1136T>G;1144G>A]	NP_001156685.1:p.[Leu379Arg;Gly382Arg]
NM_022965.3:c.[931-440T>G;931-432G>A]	NP_075254.1:n.[931-440T>G;931-432G>A]
XM_006713868.1:c.[1136T>G;1144G>A]	XP_006713931.1:p.[Leu379Arg;Gly382Arg]
XM_006713869.1:c.[1136T>G;1144G>A]	XP_006713932.1:p.[Leu379Arg;Gly382Arg]
XM_006713870.1:c.[1136T>G;1144G>A]	XP_006713933.1:p.[Leu379Arg;Gly382Arg]
XM_006713871.1:c.[1136T>G;1144G>A]	XP_006713934.1:p.[Leu379Arg;Gly382Arg]
XM_006713872.1:c.[1130T>G;1138G>A]	XP_006713935.1:p.[Leu377Arg;Gly380Arg]
XM_006713873.1:c.[1130T>G;1138G>A]	XP_006713936.1:p.[Leu377Arg;Gly380Arg]
XM_011513420.1:c.[1130T>G;1138G>A]	XP_011511722.1:p.[Leu377Arg;Gly380Arg]
XM_011513422.1:c.[1130T>G;1138G>A]	XP_011511724.1:p.[Leu377Arg;Gly380Arg]
NM_001354809.1:c.[1130T>G;1138G>A]	NP_001341738.1:p.[Leu377Arg;Gly380Arg]
NM_001354810.1:c.[1130T>G;1138G>A]	NP_001341739.1:p.[Leu377Arg;Gly380Arg]
NR_148971.1:n.[1537T>G;1545G>A]
NM_001354809.2:c.[1130T>G;1138G>A]	NP_001341738.1:p.[Leu377Arg;Gly380Arg]
NM_001354810.2:c.[1130T>G;1138G>A]	NP_001341739.1:p.[Leu377Arg;Gly380Arg]
NR_148971.2:n.[1556T>G;1564G>A]
NM_000142.5:c.[1130T>G;1138G>A] MANE Select	NP_000133.1:p.[Leu377Arg;Gly380Arg]
NM_001163213.2:c.[1136T>G;1144G>A]	NP_001156685.1:p.[Leu379Arg;Gly382Arg]
NM_022965.4:c.[931-440T>G;931-432G>A]	NP_075254.1:n.[931-440T>G;931-432G>A]