Canonical Allele Identifier: CA362287021

Gene: FGFR4

Linked Data

• dbSNP Id: rs1187249252
• gnomAD v2: 5-176518033-C-A
• gnomAD v4: 5-177091032-C-A
• MyVariant Identifiers: chr5:g.176518033C>A (hg19) ; chr5:g.177091032C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177091032C>A , CM000667.2:g.177091032C>A	GRCh38
NC_000005.9:g.176518033C>A , CM000667.1:g.176518033C>A	GRCh37
NC_000005.8:g.176450639C>A	NCBI36
NG_012067.1:g.9113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.531C>A MANE Select	ENSP00000292408.4:p.Asn177Lys
ENST00000292408.8:c.531C>A	ENSP00000292408.4:p.Asn177Lys
ENST00000393637.5:c.531C>A	ENSP00000377254.1:p.Asn177Lys
ENST00000393648.6:c.531C>A	ENSP00000377259.2:p.Asn177Lys
ENST00000426612.5:n.648C>A
ENST00000430285.5:c.*395C>A	ENSP00000395164.1:n.*395C>A
ENST00000502906.5:c.531C>A	ENSP00000424960.1:p.Asn177Lys
ENST00000503708.5:c.531C>A	ENSP00000424905.1:p.Asn177Lys
ENST00000509511.5:n.531C>A
NM_001291980.1:c.531C>A	NP_001278909.1:p.Asn177Lys
NM_002011.4:c.531C>A	NP_002002.3:p.Asn177Lys
NM_022963.3:c.531C>A	NP_075252.2:p.Asn177Lys
NM_213647.2:c.531C>A	NP_998812.1:p.Asn177Lys
XM_005265838.2:c.531C>A	XP_005265895.1:p.Asn177Lys
XM_011534464.1:c.624C>A	XP_011532766.1:p.Asn208Lys
XM_011534465.1:c.213C>A	XP_011532767.1:p.Asn71Lys
XR_941090.1:n.576C>A
NM_001354984.1:c.531C>A	NP_001341913.1:p.Asn177Lys
NM_213647.3:c.531C>A MANE Select	NP_998812.1:p.Asn177Lys
NM_001291980.2:c.531C>A	NP_001278909.1:p.Asn177Lys
NM_001354984.2:c.531C>A	NP_001341913.1:p.Asn177Lys
NM_002011.5:c.531C>A	NP_002002.3:p.Asn177Lys