Canonical Allele Identifier: CA362293297

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177093492-C-A
• COSMIC: COSM6193169 ; COSM6193170
• MyVariant Identifiers: chr5:g.176520493C>A (hg19) ; chr5:g.177093492C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093492C>A , CM000667.2:g.177093492C>A	GRCh38
NC_000005.9:g.176520493C>A , CM000667.1:g.176520493C>A	GRCh37
NC_000005.8:g.176453099C>A	NCBI36
NG_012067.1:g.11573C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1338C>A MANE Select	ENSP00000292408.4:p.Leu446=
ENST00000292408.8:c.1338C>A	ENSP00000292408.4:p.Leu446=
ENST00000393637.5:c.1218C>A	ENSP00000377254.1:p.Leu406=
ENST00000393648.6:c.1184C>A	ENSP00000377259.2:p.Ser395Ter
ENST00000502906.5:c.1338C>A	ENSP00000424960.1:p.Leu446=
ENST00000508139.1:n.716C>A
ENST00000511076.1:c.232C>A
NM_001291980.1:c.1184C>A	NP_001278909.1:p.Ser395Ter
NM_002011.4:c.1338C>A	NP_002002.3:p.Leu446=
NM_022963.3:c.1218C>A	NP_075252.2:p.Leu406=
NM_213647.2:c.1338C>A	NP_998812.1:p.Leu446=
XM_005265838.2:c.1338C>A	XP_005265895.1:p.Leu446=
XM_011534464.1:c.1431C>A	XP_011532766.1:p.Leu477=
XM_011534465.1:c.1020C>A	XP_011532767.1:p.Leu340=
XR_941090.1:n.1383C>A
NM_001354984.1:c.1338C>A	NP_001341913.1:p.Leu446=
NM_213647.3:c.1338C>A MANE Select	NP_998812.1:p.Leu446=
NM_001291980.2:c.1184C>A	NP_001278909.1:p.Ser395Ter
NM_001354984.2:c.1338C>A	NP_001341913.1:p.Leu446=
NM_002011.5:c.1338C>A	NP_002002.3:p.Leu446=