Canonical Allele Identifier: CA3576299

Gene: FGFR4

Linked Data

• ClinVar Variation Id: 3094805
• ClinVar RCV Id: RCV004394142
• dbSNP Id: rs759709290
• ExAC: 5:176520273 C / T
• gnomAD v2: 5-176520273-C-T
• gnomAD v3: 5-177093272-C-T
• gnomAD v4: 5-177093272-C-T
• MyVariant Identifiers: chr5:g.176520273C>T (hg19) ; chr5:g.177093272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093272C>T , CM000667.2:g.177093272C>T	GRCh38
NC_000005.9:g.176520273C>T , CM000667.1:g.176520273C>T	GRCh37
NC_000005.8:g.176452879C>T	NCBI36
NG_012067.1:g.11353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1192C>T MANE Select	ENSP00000292408.4:p.Arg398Trp
ENST00000292408.8:c.1192C>T	ENSP00000292408.4:p.Arg398Trp
ENST00000393637.5:c.1058-60C>T	ENSP00000377254.1:n.1058-60C>T
ENST00000393648.6:c.1097+95C>T	ENSP00000377259.2:n.1097+95C>T
ENST00000502906.5:c.1192C>T	ENSP00000424960.1:p.Arg398Trp
ENST00000508139.1:n.496C>T
ENST00000511076.1:c.98C>T
NM_001291980.1:c.1097+95C>T	NP_001278909.1:n.1097+95C>T
NM_002011.4:c.1192C>T	NP_002002.3:p.Arg398Trp
NM_022963.3:c.1058-60C>T	NP_075252.2:n.1058-60C>T
NM_213647.2:c.1192C>T	NP_998812.1:p.Arg398Trp
XM_005265838.2:c.1192C>T	XP_005265895.1:p.Arg398Trp
XM_011534464.1:c.1285C>T	XP_011532766.1:p.Arg429Trp
XM_011534465.1:c.874C>T	XP_011532767.1:p.Arg292Trp
XR_941090.1:n.1237C>T
NM_001354984.1:c.1192C>T	NP_001341913.1:p.Arg398Trp
NM_213647.3:c.1192C>T MANE Select	NP_998812.1:p.Arg398Trp
NM_001291980.2:c.1097+95C>T	NP_001278909.1:n.1097+95C>T
NM_001354984.2:c.1192C>T	NP_001341913.1:p.Arg398Trp
NM_002011.5:c.1192C>T	NP_002002.3:p.Arg398Trp