Canonical Allele Identifier: CA362287160

Gene: FGFR4

Linked Data

• dbSNP Id: rs146400837
• MyVariant Identifiers: chr5:g.176518100A>C (hg19) ; chr5:g.177091099A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177091099A>C , CM000667.2:g.177091099A>C	GRCh38
NC_000005.9:g.176518100A>C , CM000667.1:g.176518100A>C	GRCh37
NC_000005.8:g.176450706A>C	NCBI36
NG_012067.1:g.9180A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.598A>C MANE Select	ENSP00000292408.4:p.Ile200Leu
ENST00000292408.8:c.598A>C	ENSP00000292408.4:p.Ile200Leu
ENST00000393637.5:c.598A>C	ENSP00000377254.1:p.Ile200Leu
ENST00000393648.6:c.598A>C	ENSP00000377259.2:p.Ile200Leu
ENST00000430285.5:c.*462A>C	ENSP00000395164.1:n.*462A>C
ENST00000502906.5:c.598A>C	ENSP00000424960.1:p.Ile200Leu
ENST00000503708.5:c.598A>C	ENSP00000424905.1:p.Ile200Leu
ENST00000509511.5:n.598A>C
NM_001291980.1:c.598A>C	NP_001278909.1:p.Ile200Leu
NM_002011.4:c.598A>C	NP_002002.3:p.Ile200Leu
NM_022963.3:c.598A>C	NP_075252.2:p.Ile200Leu
NM_213647.2:c.598A>C	NP_998812.1:p.Ile200Leu
XM_005265838.2:c.598A>C	XP_005265895.1:p.Ile200Leu
XM_011534464.1:c.691A>C	XP_011532766.1:p.Ile231Leu
XM_011534465.1:c.280A>C	XP_011532767.1:p.Ile94Leu
XR_941090.1:n.643A>C
NM_001354984.1:c.598A>C	NP_001341913.1:p.Ile200Leu
NM_213647.3:c.598A>C MANE Select	NP_998812.1:p.Ile200Leu
NM_001291980.2:c.598A>C	NP_001278909.1:p.Ile200Leu
NM_001354984.2:c.598A>C	NP_001341913.1:p.Ile200Leu
NM_002011.5:c.598A>C	NP_002002.3:p.Ile200Leu