Canonical Allele Identifier: CA3576312

Gene: FGFR4

Linked Data

• dbSNP Id: rs367788201
• ExAC: 5:176520312 C / T
• gnomAD v2: 5-176520312-C-T
• gnomAD v3: 5-177093311-C-T
• gnomAD v4: 5-177093311-C-T
• MyVariant Identifiers: chr5:g.176520312C>T (hg19) ; chr5:g.177093311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093311C>T , CM000667.2:g.177093311C>T	GRCh38
NC_000005.9:g.176520312C>T , CM000667.1:g.176520312C>T	GRCh37
NC_000005.8:g.176452918C>T	NCBI36
NG_012067.1:g.11392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1231C>T MANE Select	ENSP00000292408.4:p.Arg411Cys
ENST00000292408.8:c.1231C>T	ENSP00000292408.4:p.Arg411Cys
ENST00000393637.5:c.1058-21C>T	ENSP00000377254.1:n.1058-21C>T
ENST00000393648.6:c.1098-95C>T	ENSP00000377259.2:n.1098-95C>T
ENST00000502906.5:c.1231C>T	ENSP00000424960.1:p.Arg411Cys
ENST00000508139.1:n.535C>T
ENST00000511076.1:c.137C>T
NM_001291980.1:c.1098-95C>T	NP_001278909.1:n.1098-95C>T
NM_002011.4:c.1231C>T	NP_002002.3:p.Arg411Cys
NM_022963.3:c.1058-21C>T	NP_075252.2:n.1058-21C>T
NM_213647.2:c.1231C>T	NP_998812.1:p.Arg411Cys
XM_005265838.2:c.1231C>T	XP_005265895.1:p.Arg411Cys
XM_011534464.1:c.1324C>T	XP_011532766.1:p.Arg442Cys
XM_011534465.1:c.913C>T	XP_011532767.1:p.Arg305Cys
XR_941090.1:n.1276C>T
NM_001354984.1:c.1231C>T	NP_001341913.1:p.Arg411Cys
NM_213647.3:c.1231C>T MANE Select	NP_998812.1:p.Arg411Cys
NM_001291980.2:c.1098-95C>T	NP_001278909.1:n.1098-95C>T
NM_001354984.2:c.1231C>T	NP_001341913.1:p.Arg411Cys
NM_002011.5:c.1231C>T	NP_002002.3:p.Arg411Cys