Canonical Allele Identifier: CA362286773

Gene: FGFR4

Linked Data

• dbSNP Id: rs1315861066
• gnomAD v2: 5-176517826-G-A
• gnomAD v3: 5-177090825-G-A
• gnomAD v4: 5-177090825-G-A
• COSMIC: COSM5931640 ; COSM5931641
• MyVariant Identifiers: chr5:g.176517826G>A (hg19) ; chr5:g.177090825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177090825G>A , CM000667.2:g.177090825G>A	GRCh38
NC_000005.9:g.176517826G>A , CM000667.1:g.176517826G>A	GRCh37
NC_000005.8:g.176450432G>A	NCBI36
NG_012067.1:g.8906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.436G>A MANE Select	ENSP00000292408.4:p.Ala146Thr
ENST00000292408.8:c.436G>A	ENSP00000292408.4:p.Ala146Thr
ENST00000393637.5:c.436G>A	ENSP00000377254.1:p.Ala146Thr
ENST00000393648.6:c.436G>A	ENSP00000377259.2:p.Ala146Thr
ENST00000426612.5:n.441G>A
ENST00000430285.5:c.*300G>A	ENSP00000395164.1:n.*300G>A
ENST00000502906.5:c.436G>A	ENSP00000424960.1:p.Ala146Thr
ENST00000503708.5:c.436G>A	ENSP00000424905.1:p.Ala146Thr
ENST00000509511.5:n.436G>A
NM_001291980.1:c.436G>A	NP_001278909.1:p.Ala146Thr
NM_002011.4:c.436G>A	NP_002002.3:p.Ala146Thr
NM_022963.3:c.436G>A	NP_075252.2:p.Ala146Thr
NM_213647.2:c.436G>A	NP_998812.1:p.Ala146Thr
XM_005265838.2:c.436G>A	XP_005265895.1:p.Ala146Thr
XM_011534464.1:c.529G>A	XP_011532766.1:p.Ala177Thr
XM_011534465.1:c.118G>A	XP_011532767.1:p.Ala40Thr
XR_941090.1:n.481G>A
NM_001354984.1:c.436G>A	NP_001341913.1:p.Ala146Thr
NM_213647.3:c.436G>A MANE Select	NP_998812.1:p.Ala146Thr
NM_001291980.2:c.436G>A	NP_001278909.1:p.Ala146Thr
NM_001354984.2:c.436G>A	NP_001341913.1:p.Ala146Thr
NM_002011.5:c.436G>A	NP_002002.3:p.Ala146Thr