Canonical Allele Identifier: CA3576291

Gene: FGFR4

Linked Data

• dbSNP Id: rs373745683
• ExAC: 5:176520252 C / G
• gnomAD v2: 5-176520252-C-G
• gnomAD v3: 5-177093251-C-G
• gnomAD v4: 5-177093251-C-G
• MyVariant Identifiers: chr5:g.176520252C>G (hg19) ; chr5:g.177093251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093251C>G , CM000667.2:g.177093251C>G	GRCh38
NC_000005.9:g.176520252C>G , CM000667.1:g.176520252C>G	GRCh37
NC_000005.8:g.176452858C>G	NCBI36
NG_012067.1:g.11332C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000292408.9:c.1171C>G MANE Select	ENSP00000292408.4:p.Arg391Gly
ENST00000292408.8:c.1171C>G	ENSP00000292408.4:p.Arg391Gly
ENST00000393637.5:c.1058-81C>G	ENSP00000377254.1:n.1058-81C>G
ENST00000393648.6:c.1097+74C>G	ENSP00000377259.2:n.1097+74C>G
ENST00000502906.5:c.1171C>G	ENSP00000424960.1:p.Arg391Gly
ENST00000508139.1:n.475C>G
ENST00000511076.1:c.77C>G
NM_001291980.1:c.1097+74C>G	NP_001278909.1:n.1097+74C>G
NM_002011.4:c.1171C>G	NP_002002.3:p.Arg391Gly
NM_022963.3:c.1058-81C>G	NP_075252.2:n.1058-81C>G
NM_213647.2:c.1171C>G	NP_998812.1:p.Arg391Gly
XM_005265838.2:c.1171C>G	XP_005265895.1:p.Arg391Gly
XM_011534464.1:c.1264C>G	XP_011532766.1:p.Arg422Gly
XM_011534465.1:c.853C>G	XP_011532767.1:p.Arg285Gly
XR_941090.1:n.1216C>G
NM_001354984.1:c.1171C>G	NP_001341913.1:p.Arg391Gly
NM_213647.3:c.1171C>G MANE Select	NP_998812.1:p.Arg391Gly
NM_001291980.2:c.1097+74C>G	NP_001278909.1:n.1097+74C>G
NM_001354984.2:c.1171C>G	NP_001341913.1:p.Arg391Gly
NM_002011.5:c.1171C>G	NP_002002.3:p.Arg391Gly