Canonical Allele Identifier: CA362287090

Gene: FGFR4

Linked Data

• dbSNP Id: rs1784351159
• gnomAD v4: 5-177091066-C-A
• MyVariant Identifiers: chr5:g.176518067C>A (hg19) ; chr5:g.177091066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177091066C>A , CM000667.2:g.177091066C>A	GRCh38
NC_000005.9:g.176518067C>A , CM000667.1:g.176518067C>A	GRCh37
NC_000005.8:g.176450673C>A	NCBI36
NG_012067.1:g.9147C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.565C>A MANE Select	ENSP00000292408.4:p.Gln189Lys
ENST00000292408.8:c.565C>A	ENSP00000292408.4:p.Gln189Lys
ENST00000393637.5:c.565C>A	ENSP00000377254.1:p.Gln189Lys
ENST00000393648.6:c.565C>A	ENSP00000377259.2:p.Gln189Lys
ENST00000426612.5:n.682C>A
ENST00000430285.5:c.*429C>A	ENSP00000395164.1:n.*429C>A
ENST00000502906.5:c.565C>A	ENSP00000424960.1:p.Gln189Lys
ENST00000503708.5:c.565C>A	ENSP00000424905.1:p.Gln189Lys
ENST00000509511.5:n.565C>A
NM_001291980.1:c.565C>A	NP_001278909.1:p.Gln189Lys
NM_002011.4:c.565C>A	NP_002002.3:p.Gln189Lys
NM_022963.3:c.565C>A	NP_075252.2:p.Gln189Lys
NM_213647.2:c.565C>A	NP_998812.1:p.Gln189Lys
XM_005265838.2:c.565C>A	XP_005265895.1:p.Gln189Lys
XM_011534464.1:c.658C>A	XP_011532766.1:p.Gln220Lys
XM_011534465.1:c.247C>A	XP_011532767.1:p.Gln83Lys
XR_941090.1:n.610C>A
NM_001354984.1:c.565C>A	NP_001341913.1:p.Gln189Lys
NM_213647.3:c.565C>A MANE Select	NP_998812.1:p.Gln189Lys
NM_001291980.2:c.565C>A	NP_001278909.1:p.Gln189Lys
NM_001354984.2:c.565C>A	NP_001341913.1:p.Gln189Lys
NM_002011.5:c.565C>A	NP_002002.3:p.Gln189Lys