Canonical Allele Identifier: CA3576292

Gene: FGFR4

Linked Data

• dbSNP Id: rs375466821
• ExAC: 5:176520253 G / A
• gnomAD v2: 5-176520253-G-A
• gnomAD v3: 5-177093252-G-A
• gnomAD v4: 5-177093252-G-A
• MyVariant Identifiers: chr5:g.176520253G>A (hg19) ; chr5:g.177093252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093252G>A , CM000667.2:g.177093252G>A	GRCh38
NC_000005.9:g.176520253G>A , CM000667.1:g.176520253G>A	GRCh37
NC_000005.8:g.176452859G>A	NCBI36
NG_012067.1:g.11333G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000292408.9:c.1172G>A MANE Select	ENSP00000292408.4:p.Arg391Gln
ENST00000292408.8:c.1172G>A	ENSP00000292408.4:p.Arg391Gln
ENST00000393637.5:c.1058-80G>A	ENSP00000377254.1:n.1058-80G>A
ENST00000393648.6:c.1097+75G>A	ENSP00000377259.2:n.1097+75G>A
ENST00000502906.5:c.1172G>A	ENSP00000424960.1:p.Arg391Gln
ENST00000508139.1:n.476G>A
ENST00000511076.1:c.78G>A
NM_001291980.1:c.1097+75G>A	NP_001278909.1:n.1097+75G>A
NM_002011.4:c.1172G>A	NP_002002.3:p.Arg391Gln
NM_022963.3:c.1058-80G>A	NP_075252.2:n.1058-80G>A
NM_213647.2:c.1172G>A	NP_998812.1:p.Arg391Gln
XM_005265838.2:c.1172G>A	XP_005265895.1:p.Arg391Gln
XM_011534464.1:c.1265G>A	XP_011532766.1:p.Arg422Gln
XM_011534465.1:c.854G>A	XP_011532767.1:p.Arg285Gln
XR_941090.1:n.1217G>A
NM_001354984.1:c.1172G>A	NP_001341913.1:p.Arg391Gln
NM_213647.3:c.1172G>A MANE Select	NP_998812.1:p.Arg391Gln
NM_001291980.2:c.1097+75G>A	NP_001278909.1:n.1097+75G>A
NM_001354984.2:c.1172G>A	NP_001341913.1:p.Arg391Gln
NM_002011.5:c.1172G>A	NP_002002.3:p.Arg391Gln