Canonical Allele Identifier: CA3576182

Gene: FGFR4

Linked Data

• dbSNP Id: rs748346893
• ExAC: 5:176519673 G / A
• gnomAD v2: 5-176519673-G-A
• gnomAD v3: 5-177092672-G-A
• gnomAD v4: 5-177092672-G-A
• COSMIC: COSM5608824 ; COSM5608825
• MyVariant Identifiers: chr5:g.176519673G>A (hg19) ; chr5:g.177092672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177092672G>A , CM000667.2:g.177092672G>A	GRCh38
NC_000005.9:g.176519673G>A , CM000667.1:g.176519673G>A	GRCh37
NC_000005.8:g.176452279G>A	NCBI36
NG_012067.1:g.10753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.945G>A MANE Select	ENSP00000292408.4:p.Val315=
ENST00000292408.8:c.945G>A	ENSP00000292408.4:p.Val315=
ENST00000393637.5:c.945G>A	ENSP00000377254.1:p.Val315=
ENST00000393648.6:c.945G>A	ENSP00000377259.2:p.Val315=
ENST00000502906.5:c.945G>A	ENSP00000424960.1:p.Val315=
ENST00000508139.1:n.249G>A
ENST00000509511.5:n.945G>A
NM_001291980.1:c.945G>A	NP_001278909.1:p.Val315=
NM_002011.4:c.945G>A	NP_002002.3:p.Val315=
NM_022963.3:c.945G>A	NP_075252.2:p.Val315=
NM_213647.2:c.945G>A	NP_998812.1:p.Val315=
XM_005265838.2:c.945G>A	XP_005265895.1:p.Val315=
XM_011534464.1:c.1038G>A	XP_011532766.1:p.Val346=
XM_011534465.1:c.627G>A	XP_011532767.1:p.Val209=
XR_941090.1:n.990G>A
NM_001354984.1:c.945G>A	NP_001341913.1:p.Val315=
NM_213647.3:c.945G>A MANE Select	NP_998812.1:p.Val315=
NM_001291980.2:c.945G>A	NP_001278909.1:p.Val315=
NM_001354984.2:c.945G>A	NP_001341913.1:p.Val315=
NM_002011.5:c.945G>A	NP_002002.3:p.Val315=