Canonical Allele Identifier: CA3576042

Gene: FGFR4

Linked Data

• dbSNP Id: rs149737957
• ExAC: 5:176518050 G / A
• gnomAD v2: 5-176518050-G-A
• gnomAD v3: 5-177091049-G-A
• gnomAD v4: 5-177091049-G-A
• MyVariant Identifiers: chr5:g.176518050G>A (hg19) ; chr5:g.177091049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177091049G>A , CM000667.2:g.177091049G>A	GRCh38
NC_000005.9:g.176518050G>A , CM000667.1:g.176518050G>A	GRCh37
NC_000005.8:g.176450656G>A	NCBI36
NG_012067.1:g.9130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.548G>A MANE Select	ENSP00000292408.4:p.Arg183His
ENST00000292408.8:c.548G>A	ENSP00000292408.4:p.Arg183His
ENST00000393637.5:c.548G>A	ENSP00000377254.1:p.Arg183His
ENST00000393648.6:c.548G>A	ENSP00000377259.2:p.Arg183His
ENST00000426612.5:n.665G>A
ENST00000430285.5:c.*412G>A	ENSP00000395164.1:n.*412G>A
ENST00000502906.5:c.548G>A	ENSP00000424960.1:p.Arg183His
ENST00000503708.5:c.548G>A	ENSP00000424905.1:p.Arg183His
ENST00000509511.5:n.548G>A
NM_001291980.1:c.548G>A	NP_001278909.1:p.Arg183His
NM_002011.4:c.548G>A	NP_002002.3:p.Arg183His
NM_022963.3:c.548G>A	NP_075252.2:p.Arg183His
NM_213647.2:c.548G>A	NP_998812.1:p.Arg183His
XM_005265838.2:c.548G>A	XP_005265895.1:p.Arg183His
XM_011534464.1:c.641G>A	XP_011532766.1:p.Arg214His
XM_011534465.1:c.230G>A	XP_011532767.1:p.Arg77His
XR_941090.1:n.593G>A
NM_001354984.1:c.548G>A	NP_001341913.1:p.Arg183His
NM_213647.3:c.548G>A MANE Select	NP_998812.1:p.Arg183His
NM_001291980.2:c.548G>A	NP_001278909.1:p.Arg183His
NM_001354984.2:c.548G>A	NP_001341913.1:p.Arg183His
NM_002011.5:c.548G>A	NP_002002.3:p.Arg183His