Canonical Allele Identifier: CA362290892

Gene: FGFR4

Linked Data

• MyVariant Identifiers: chr5:g.176520192A>C (hg19) ; chr5:g.177093191A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093191A>C , CM000667.2:g.177093191A>C	GRCh38
NC_000005.9:g.176520192A>C , CM000667.1:g.176520192A>C	GRCh37
NC_000005.8:g.176452798A>C	NCBI36
NG_012067.1:g.11272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1111A>C MANE Select	ENSP00000292408.4:p.Ile371Leu
ENST00000292408.8:c.1111A>C	ENSP00000292408.4:p.Ile371Leu
ENST00000393637.5:c.1058-141A>C	ENSP00000377254.1:n.1058-141A>C
ENST00000393648.6:c.1097+14A>C	ENSP00000377259.2:n.1097+14A>C
ENST00000502906.5:c.1111A>C	ENSP00000424960.1:p.Ile371Leu
ENST00000508139.1:n.415A>C
ENST00000511076.1:c.17A>C
NM_001291980.1:c.1097+14A>C	NP_001278909.1:n.1097+14A>C
NM_002011.4:c.1111A>C	NP_002002.3:p.Ile371Leu
NM_022963.3:c.1058-141A>C	NP_075252.2:n.1058-141A>C
NM_213647.2:c.1111A>C	NP_998812.1:p.Ile371Leu
XM_005265838.2:c.1111A>C	XP_005265895.1:p.Ile371Leu
XM_011534464.1:c.1204A>C	XP_011532766.1:p.Ile402Leu
XM_011534465.1:c.793A>C	XP_011532767.1:p.Ile265Leu
XR_941090.1:n.1156A>C
NM_001354984.1:c.1111A>C	NP_001341913.1:p.Ile371Leu
NM_213647.3:c.1111A>C MANE Select	NP_998812.1:p.Ile371Leu
NM_001291980.2:c.1097+14A>C	NP_001278909.1:n.1097+14A>C
NM_001354984.2:c.1111A>C	NP_001341913.1:p.Ile371Leu
NM_002011.5:c.1111A>C	NP_002002.3:p.Ile371Leu