Canonical Allele Identifier: CA447958783

Gene: FGFR4

Linked Data

• dbSNP Id: rs1348918477
• gnomAD v2: 5-176520317-C-T
• gnomAD v4: 5-177093316-C-T
• COSMIC: COSM5590981
• MyVariant Identifiers: chr5:g.176520317C>T (hg19) ; chr5:g.177093316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093316C>T , CM000667.2:g.177093316C>T	GRCh38
NC_000005.9:g.176520317C>T , CM000667.1:g.176520317C>T	GRCh37
NC_000005.8:g.176452923C>T	NCBI36
NG_012067.1:g.11397C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1236C>T MANE Select	ENSP00000292408.4:p.Phe412=
ENST00000292408.8:c.1236C>T	ENSP00000292408.4:p.Phe412=
ENST00000393637.5:c.1058-16C>T	ENSP00000377254.1:n.1058-16C>T
ENST00000393648.6:c.1098-90C>T	ENSP00000377259.2:n.1098-90C>T
ENST00000502906.5:c.1236C>T	ENSP00000424960.1:p.Phe412=
ENST00000508139.1:n.540C>T
ENST00000511076.1:c.142C>T
NM_001291980.1:c.1098-90C>T	NP_001278909.1:n.1098-90C>T
NM_002011.4:c.1236C>T	NP_002002.3:p.Phe412=
NM_022963.3:c.1058-16C>T	NP_075252.2:n.1058-16C>T
NM_213647.2:c.1236C>T	NP_998812.1:p.Phe412=
XM_005265838.2:c.1236C>T	XP_005265895.1:p.Phe412=
XM_011534464.1:c.1329C>T	XP_011532766.1:p.Phe443=
XM_011534465.1:c.918C>T	XP_011532767.1:p.Phe306=
XR_941090.1:n.1281C>T
NM_001354984.1:c.1236C>T	NP_001341913.1:p.Phe412=
NM_213647.3:c.1236C>T MANE Select	NP_998812.1:p.Phe412=
NM_001291980.2:c.1098-90C>T	NP_001278909.1:n.1098-90C>T
NM_001354984.2:c.1236C>T	NP_001341913.1:p.Phe412=
NM_002011.5:c.1236C>T	NP_002002.3:p.Phe412=