Canonical Allele Identifier: CA564490428

Gene: FGFR4

Linked Data

• dbSNP Id: rs1165218853
• gnomAD v2: 5-176519666-C-CA
• gnomAD v4: 5-177092665-C-CA
• MyVariant Identifiers: chr5:g.176519666_176519667insA (hg19) ; chr5:g.177092665_177092666insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177092666dup , CM000667.2:g.177092666dup	GRCh38
NC_000005.9:g.176519667dup , CM000667.1:g.176519667dup	GRCh37
NC_000005.8:g.176452273dup	NCBI36
NG_012067.1:g.10747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.939dup MANE Select	ENSP00000292408.4:p.Glu314ArgfsTer?
ENST00000292408.8:c.939dup	ENSP00000292408.4:p.Glu314ArgfsTer?
ENST00000393637.5:c.939dup	ENSP00000377254.1:p.Glu314ArgfsTer?
ENST00000393648.6:c.939dup	ENSP00000377259.2:p.Glu314ArgfsTer?
ENST00000502906.5:c.939dup	ENSP00000424960.1:p.Glu314ArgfsTer?
ENST00000508139.1:n.243dup
ENST00000509511.5:n.939dup
NM_001291980.1:c.939dup	NP_001278909.1:p.Glu314ArgfsTer?
NM_002011.4:c.939dup	NP_002002.3:p.Glu314ArgfsTer?
NM_022963.3:c.939dup	NP_075252.2:p.Glu314ArgfsTer?
NM_213647.2:c.939dup	NP_998812.1:p.Glu314ArgfsTer?
XM_005265838.2:c.939dup	XP_005265895.1:p.Glu314ArgfsTer?
XM_011534464.1:c.1032dup	XP_011532766.1:p.Glu345ArgfsTer?
XM_011534465.1:c.621dup	XP_011532767.1:p.Glu208ArgfsTer?
XR_941090.1:n.984dup
NM_001354984.1:c.939dup	NP_001341913.1:p.Glu314ArgfsTer?
NM_213647.3:c.939dup MANE Select	NP_998812.1:p.Glu314ArgfsTer?
NM_001291980.2:c.939dup	NP_001278909.1:p.Glu314ArgfsTer?
NM_001354984.2:c.939dup	NP_001341913.1:p.Glu314ArgfsTer?
NM_002011.5:c.939dup	NP_002002.3:p.Glu314ArgfsTer?