Canonical Allele Identifier: CA362287141

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177091088-G-T
• MyVariant Identifiers: chr5:g.176518089G>T (hg19) ; chr5:g.177091088G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177091088G>T , CM000667.2:g.177091088G>T	GRCh38
NC_000005.9:g.176518089G>T , CM000667.1:g.176518089G>T	GRCh37
NC_000005.8:g.176450695G>T	NCBI36
NG_012067.1:g.9169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.587G>T MANE Select	ENSP00000292408.4:p.Arg196Leu
ENST00000292408.8:c.587G>T	ENSP00000292408.4:p.Arg196Leu
ENST00000393637.5:c.587G>T	ENSP00000377254.1:p.Arg196Leu
ENST00000393648.6:c.587G>T	ENSP00000377259.2:p.Arg196Leu
ENST00000426612.5:n.704G>T
ENST00000430285.5:c.*451G>T	ENSP00000395164.1:n.*451G>T
ENST00000502906.5:c.587G>T	ENSP00000424960.1:p.Arg196Leu
ENST00000503708.5:c.587G>T	ENSP00000424905.1:p.Arg196Leu
ENST00000509511.5:n.587G>T
NM_001291980.1:c.587G>T	NP_001278909.1:p.Arg196Leu
NM_002011.4:c.587G>T	NP_002002.3:p.Arg196Leu
NM_022963.3:c.587G>T	NP_075252.2:p.Arg196Leu
NM_213647.2:c.587G>T	NP_998812.1:p.Arg196Leu
XM_005265838.2:c.587G>T	XP_005265895.1:p.Arg196Leu
XM_011534464.1:c.680G>T	XP_011532766.1:p.Arg227Leu
XM_011534465.1:c.269G>T	XP_011532767.1:p.Arg90Leu
XR_941090.1:n.632G>T
NM_001354984.1:c.587G>T	NP_001341913.1:p.Arg196Leu
NM_213647.3:c.587G>T MANE Select	NP_998812.1:p.Arg196Leu
NM_001291980.2:c.587G>T	NP_001278909.1:p.Arg196Leu
NM_001354984.2:c.587G>T	NP_001341913.1:p.Arg196Leu
NM_002011.5:c.587G>T	NP_002002.3:p.Arg196Leu