Canonical Allele Identifier: CA2810147

Gene: FGFR3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1803728G>A , CM000666.2:g.1803728G>A	GRCh38
NC_000004.11:g.1805455G>A , CM000666.1:g.1805455G>A	GRCh37
NC_000004.10:g.1775253G>A	NCBI36
NG_012632.1:g.15417G>A , LRG_1021:g.15417G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000142.5:c.967G>A MANE Select	NP_000133.1:p.Val323Ile
ENST00000440486.8:c.967G>A MANE Select	ENSP00000414914.2:p.Val323Ile
NM_000142.4:c.967G>A , LRG_1021t1:c.967G>A	NP_000133.1:p.Val323Ile
NM_001163213.1:c.1082-602G>A , LRG_1021t2:c.1082-602G>A	NP_001156685.1:n.1082-602G>A
NM_001163213.2:c.1082-602G>A	NP_001156685.1:n.1082-602G>A
NM_001354809.1:c.967G>A	NP_001341738.1:p.Val323Ile
NM_001354809.2:c.967G>A	NP_001341738.1:p.Val323Ile
NM_001354810.1:c.967G>A	NP_001341739.1:p.Val323Ile
NM_001354810.2:c.967G>A	NP_001341739.1:p.Val323Ile
NM_022965.3:c.931-1096G>A	NP_075254.1:n.931-1096G>A
NM_022965.4:c.931-1096G>A	NP_075254.1:n.931-1096G>A
NR_148971.1:n.1374G>A
NR_148971.2:n.1393G>A
ENST00000260795.6:c.967G>A	ENSP00000260795.2:p.Val323Ile
ENST00000260795.8:c.*23G>A	ENSP00000260795.3:n.*23G>A
ENST00000340107.8:c.1082-602G>A	ENSP00000339824.4:n.1082-602G>A
ENST00000340107.9:c.1082-602G>A	ENSP00000339824.4:n.1082-602G>A
ENST00000352904.5:c.931-1096G>A	ENSP00000231803.1:n.931-1096G>A
ENST00000352904.6:c.931-1096G>A	ENSP00000231803.1:n.931-1096G>A
ENST00000412135.6:c.931-1096G>A	ENSP00000412903.2:n.931-1096G>A
ENST00000412135.7:c.955G>A	ENSP00000412903.3:p.Val319Ile
ENST00000440486.6:c.967G>A	ENSP00000414914.2:p.Val323Ile
ENST00000481110.6:c.967G>A	ENSP00000420533.2:p.Val323Ile
ENST00000481110.7:c.967G>A	ENSP00000420533.2:p.Val323Ile
ENST00000507588.1:c.325G>A	ENSP00000427289.1:p.Val109Ile
ENST00000613647.4:c.*23G>A	ENSP00000479472.1:n.*23G>A
ENST00000643463.1:n.227-602G>A
XM_006713868.1:c.1082-602G>A	XP_006713931.1:n.1082-602G>A
XM_006713869.1:c.1082-602G>A	XP_006713932.1:n.1082-602G>A
XM_006713870.1:c.1082-602G>A	XP_006713933.1:n.1082-602G>A
XM_006713871.1:c.1082-602G>A	XP_006713934.1:n.1082-602G>A
XM_006713872.1:c.967G>A	XP_006713935.1:p.Val323Ile
XM_006713873.1:c.967G>A	XP_006713936.1:p.Val323Ile
XM_011513420.1:c.967G>A	XP_011511722.1:p.Val323Ile
XM_011513422.1:c.967G>A	XP_011511724.1:p.Val323Ile