Canonical Allele Identifier: CA362291550

Gene: FGFR4

Linked Data

• MyVariant Identifiers: chr5:g.176520253G>T (hg19) ; chr5:g.177093252G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000292408.9:c.1172G>T MANE Select	ENSP00000292408.4:p.Arg391Leu
ENST00000292408.8:c.1172G>T	ENSP00000292408.4:p.Arg391Leu
ENST00000393637.5:c.1058-80G>T	ENSP00000377254.1:n.1058-80G>T
ENST00000393648.6:c.1097+75G>T	ENSP00000377259.2:n.1097+75G>T
ENST00000502906.5:c.1172G>T	ENSP00000424960.1:p.Arg391Leu
ENST00000508139.1:n.476G>T
ENST00000511076.1:c.78G>T
NM_001291980.1:c.1097+75G>T	NP_001278909.1:n.1097+75G>T
NM_002011.4:c.1172G>T	NP_002002.3:p.Arg391Leu
NM_022963.3:c.1058-80G>T	NP_075252.2:n.1058-80G>T
NM_213647.2:c.1172G>T	NP_998812.1:p.Arg391Leu
XM_005265838.2:c.1172G>T	XP_005265895.1:p.Arg391Leu
XM_011534464.1:c.1265G>T	XP_011532766.1:p.Arg422Leu
XM_011534465.1:c.854G>T	XP_011532767.1:p.Arg285Leu
XR_941090.1:n.1217G>T
NM_001354984.1:c.1172G>T	NP_001341913.1:p.Arg391Leu
NM_213647.3:c.1172G>T MANE Select	NP_998812.1:p.Arg391Leu
NM_001291980.2:c.1097+75G>T	NP_001278909.1:n.1097+75G>T
NM_001354984.2:c.1172G>T	NP_001341913.1:p.Arg391Leu
NM_002011.5:c.1172G>T	NP_002002.3:p.Arg391Leu