Canonical Allele Identifier: CA362286990

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177091017-T-A
• MyVariant Identifiers: chr5:g.176518018T>A (hg19) ; chr5:g.177091017T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177091017T>A , CM000667.2:g.177091017T>A	GRCh38
NC_000005.9:g.176518018T>A , CM000667.1:g.176518018T>A	GRCh37
NC_000005.8:g.176450624T>A	NCBI36
NG_012067.1:g.9098T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.516T>A MANE Select	ENSP00000292408.4:p.Cys172Ter
ENST00000292408.8:c.516T>A	ENSP00000292408.4:p.Cys172Ter
ENST00000393637.5:c.516T>A	ENSP00000377254.1:p.Cys172Ter
ENST00000393648.6:c.516T>A	ENSP00000377259.2:p.Cys172Ter
ENST00000426612.5:n.633T>A
ENST00000430285.5:c.*380T>A	ENSP00000395164.1:n.*380T>A
ENST00000502906.5:c.516T>A	ENSP00000424960.1:p.Cys172Ter
ENST00000503708.5:c.516T>A	ENSP00000424905.1:p.Cys172Ter
ENST00000509511.5:n.516T>A
NM_001291980.1:c.516T>A	NP_001278909.1:p.Cys172Ter
NM_002011.4:c.516T>A	NP_002002.3:p.Cys172Ter
NM_022963.3:c.516T>A	NP_075252.2:p.Cys172Ter
NM_213647.2:c.516T>A	NP_998812.1:p.Cys172Ter
XM_005265838.2:c.516T>A	XP_005265895.1:p.Cys172Ter
XM_011534464.1:c.609T>A	XP_011532766.1:p.Cys203Ter
XM_011534465.1:c.198T>A	XP_011532767.1:p.Cys66Ter
XR_941090.1:n.561T>A
NM_001354984.1:c.516T>A	NP_001341913.1:p.Cys172Ter
NM_213647.3:c.516T>A MANE Select	NP_998812.1:p.Cys172Ter
NM_001291980.2:c.516T>A	NP_001278909.1:p.Cys172Ter
NM_001354984.2:c.516T>A	NP_001341913.1:p.Cys172Ter
NM_002011.5:c.516T>A	NP_002002.3:p.Cys172Ter