Canonical Allele Identifier: CA132835141

Gene: FGFR4

Linked Data

• dbSNP Id: rs955680763
• gnomAD v4: 5-177097537-T-G
• MyVariant Identifiers: chr5:g.176524538T>G (hg19) ; chr5:g.177097537T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177097537T>G , CM000667.2:g.177097537T>G	GRCh38
NC_000005.9:g.176524538T>G , CM000667.1:g.176524538T>G	GRCh37
NC_000005.8:g.176457144T>G	NCBI36
NG_012067.1:g.15618T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000292408.9:c.2270T>G MANE Select	ENSP00000292408.4:p.Leu757Arg
ENST00000292408.8:c.2270T>G	ENSP00000292408.4:p.Leu757Arg
ENST00000393637.5:c.2150T>G	ENSP00000377254.1:p.Leu717Arg
ENST00000393648.6:c.2066T>G	ENSP00000377259.2:p.Leu689Arg
ENST00000502906.5:c.2270T>G	ENSP00000424960.1:p.Leu757Arg
ENST00000513423.1:n.218T>G
NM_001291980.1:c.2066T>G	NP_001278909.1:p.Leu689Arg
NM_002011.4:c.2270T>G	NP_002002.3:p.Leu757Arg
NM_022963.3:c.2150T>G	NP_075252.2:p.Leu717Arg
NM_213647.2:c.2270T>G	NP_998812.1:p.Leu757Arg
XM_005265838.2:c.2270T>G	XP_005265895.1:p.Leu757Arg
XM_011534464.1:c.2363T>G	XP_011532766.1:p.Leu788Arg
XM_011534465.1:c.1952T>G	XP_011532767.1:p.Leu651Arg
NM_001354984.1:c.2270T>G	NP_001341913.1:p.Leu757Arg
NM_213647.3:c.2270T>G MANE Select	NP_998812.1:p.Leu757Arg
NM_001291980.2:c.2066T>G	NP_001278909.1:p.Leu689Arg
NM_001354984.2:c.2270T>G	NP_001341913.1:p.Leu757Arg
NM_002011.5:c.2270T>G	NP_002002.3:p.Leu757Arg