Canonical Allele Identifier: CA2676681030

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177091014-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177091015del , CM000667.2:g.177091015del	GRCh38
NC_000005.9:g.176518016del , CM000667.1:g.176518016del	GRCh37
NC_000005.8:g.176450622del	NCBI36
NG_012067.1:g.9096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.514del MANE Select	ENSP00000292408.4:p.Cys172ValfsTer?
ENST00000292408.8:c.514del	ENSP00000292408.4:p.Cys172ValfsTer?
ENST00000393637.5:c.514del	ENSP00000377254.1:p.Cys172ValfsTer?
ENST00000393648.6:c.514del	ENSP00000377259.2:p.Cys172ValfsTer?
ENST00000426612.5:n.631del
ENST00000430285.5:c.*378del	ENSP00000395164.1:n.*378del
ENST00000502906.5:c.514del	ENSP00000424960.1:p.Cys172ValfsTer?
ENST00000503708.5:c.514del	ENSP00000424905.1:p.Cys172ValfsTer?
ENST00000509511.5:n.514del
NM_001291980.1:c.514del	NP_001278909.1:p.Cys172ValfsTer?
NM_002011.4:c.514del	NP_002002.3:p.Cys172ValfsTer?
NM_022963.3:c.514del	NP_075252.2:p.Cys172ValfsTer?
NM_213647.2:c.514del	NP_998812.1:p.Cys172ValfsTer?
XM_005265838.2:c.514del	XP_005265895.1:p.Cys172ValfsTer?
XM_011534464.1:c.607del	XP_011532766.1:p.Cys203ValfsTer?
XM_011534465.1:c.196del	XP_011532767.1:p.Cys66ValfsTer?
XR_941090.1:n.559del
NM_001354984.1:c.514del	NP_001341913.1:p.Cys172ValfsTer?
NM_213647.3:c.514del MANE Select	NP_998812.1:p.Cys172ValfsTer?
NM_001291980.2:c.514del	NP_001278909.1:p.Cys172ValfsTer?
NM_001354984.2:c.514del	NP_001341913.1:p.Cys172ValfsTer?
NM_002011.5:c.514del	NP_002002.3:p.Cys172ValfsTer?