Canonical Allele Identifier: CA3576321

Gene: FGFR4

Linked Data

• dbSNP Id: rs760733935
• ExAC: 5:176520342 G / A
• gnomAD v2: 5-176520342-G-A
• gnomAD v3: 5-177093341-G-A
• gnomAD v4: 5-177093341-G-A
• COSMIC: COSM1436240 ; COSM1436241
• MyVariant Identifiers: chr5:g.176520342G>A (hg19) ; chr5:g.177093341G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093341G>A , CM000667.2:g.177093341G>A	GRCh38
NC_000005.9:g.176520342G>A , CM000667.1:g.176520342G>A	GRCh37
NC_000005.8:g.176452948G>A	NCBI36
NG_012067.1:g.11422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1251+10G>A MANE Select	ENSP00000292408.4:n.1251+10G>A
ENST00000292408.8:c.1251+10G>A	ENSP00000292408.4:n.1251+10G>A
ENST00000393637.5:c.1067G>A	ENSP00000377254.1:p.Arg356His
ENST00000393648.6:c.1098-65G>A	ENSP00000377259.2:n.1098-65G>A
ENST00000502906.5:c.1251+10G>A	ENSP00000424960.1:n.1251+10G>A
ENST00000508139.1:n.565G>A
ENST00000511076.1:c.157+10G>A
NM_001291980.1:c.1098-65G>A	NP_001278909.1:n.1098-65G>A
NM_002011.4:c.1251+10G>A	NP_002002.3:n.1251+10G>A
NM_022963.3:c.1067G>A	NP_075252.2:p.Arg356His
NM_213647.2:c.1251+10G>A	NP_998812.1:n.1251+10G>A
XM_005265838.2:c.1251+10G>A	XP_005265895.1:n.1251+10G>A
XM_011534464.1:c.1344+10G>A	XP_011532766.1:n.1344+10G>A
XM_011534465.1:c.933+10G>A	XP_011532767.1:n.933+10G>A
XR_941090.1:n.1296+10G>A
NM_001354984.1:c.1251+10G>A	NP_001341913.1:n.1251+10G>A
NM_213647.3:c.1251+10G>A MANE Select	NP_998812.1:n.1251+10G>A
NM_001291980.2:c.1098-65G>A	NP_001278909.1:n.1098-65G>A
NM_001354984.2:c.1251+10G>A	NP_001341913.1:n.1251+10G>A
NM_002011.5:c.1251+10G>A	NP_002002.3:n.1251+10G>A