Canonical Allele Identifier: CA362286906

Gene: FGFR4

Linked Data

• dbSNP Id: rs2149731822
• gnomAD v4: 5-177090977-T-C
• MyVariant Identifiers: chr5:g.176517978T>C (hg19) ; chr5:g.177090977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177090977T>C , CM000667.2:g.177090977T>C	GRCh38
NC_000005.9:g.176517978T>C , CM000667.1:g.176517978T>C	GRCh37
NC_000005.8:g.176450584T>C	NCBI36
NG_012067.1:g.9058T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.476T>C MANE Select	ENSP00000292408.4:p.Leu159Pro
ENST00000292408.8:c.476T>C	ENSP00000292408.4:p.Leu159Pro
ENST00000393637.5:c.476T>C	ENSP00000377254.1:p.Leu159Pro
ENST00000393648.6:c.476T>C	ENSP00000377259.2:p.Leu159Pro
ENST00000426612.5:n.593T>C
ENST00000430285.5:c.*340T>C	ENSP00000395164.1:n.*340T>C
ENST00000502906.5:c.476T>C	ENSP00000424960.1:p.Leu159Pro
ENST00000503708.5:c.476T>C	ENSP00000424905.1:p.Leu159Pro
ENST00000509511.5:n.476T>C
NM_001291980.1:c.476T>C	NP_001278909.1:p.Leu159Pro
NM_002011.4:c.476T>C	NP_002002.3:p.Leu159Pro
NM_022963.3:c.476T>C	NP_075252.2:p.Leu159Pro
NM_213647.2:c.476T>C	NP_998812.1:p.Leu159Pro
XM_005265838.2:c.476T>C	XP_005265895.1:p.Leu159Pro
XM_011534464.1:c.569T>C	XP_011532766.1:p.Leu190Pro
XM_011534465.1:c.158T>C	XP_011532767.1:p.Leu53Pro
XR_941090.1:n.521T>C
NM_001354984.1:c.476T>C	NP_001341913.1:p.Leu159Pro
NM_213647.3:c.476T>C MANE Select	NP_998812.1:p.Leu159Pro
NM_001291980.2:c.476T>C	NP_001278909.1:p.Leu159Pro
NM_001354984.2:c.476T>C	NP_001341913.1:p.Leu159Pro
NM_002011.5:c.476T>C	NP_002002.3:p.Leu159Pro