Canonical Allele Identifier: CA362291250

Gene: FGFR4

Linked Data

• dbSNP Id: rs2149735208
• gnomAD v4: 5-177093227-C-T
• MyVariant Identifiers: chr5:g.176520228C>T (hg19) ; chr5:g.177093227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093227C>T , CM000667.2:g.177093227C>T	GRCh38
NC_000005.9:g.176520228C>T , CM000667.1:g.176520228C>T	GRCh37
NC_000005.8:g.176452834C>T	NCBI36
NG_012067.1:g.11308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1147C>T MANE Select	ENSP00000292408.4:p.Leu383Phe
ENST00000292408.8:c.1147C>T	ENSP00000292408.4:p.Leu383Phe
ENST00000393637.5:c.1058-105C>T	ENSP00000377254.1:n.1058-105C>T
ENST00000393648.6:c.1097+50C>T	ENSP00000377259.2:n.1097+50C>T
ENST00000502906.5:c.1147C>T	ENSP00000424960.1:p.Leu383Phe
ENST00000508139.1:n.451C>T
ENST00000511076.1:c.53C>T
NM_001291980.1:c.1097+50C>T	NP_001278909.1:n.1097+50C>T
NM_002011.4:c.1147C>T	NP_002002.3:p.Leu383Phe
NM_022963.3:c.1058-105C>T	NP_075252.2:n.1058-105C>T
NM_213647.2:c.1147C>T	NP_998812.1:p.Leu383Phe
XM_005265838.2:c.1147C>T	XP_005265895.1:p.Leu383Phe
XM_011534464.1:c.1240C>T	XP_011532766.1:p.Leu414Phe
XM_011534465.1:c.829C>T	XP_011532767.1:p.Leu277Phe
XR_941090.1:n.1192C>T
NM_001354984.1:c.1147C>T	NP_001341913.1:p.Leu383Phe
NM_213647.3:c.1147C>T MANE Select	NP_998812.1:p.Leu383Phe
NM_001291980.2:c.1097+50C>T	NP_001278909.1:n.1097+50C>T
NM_001354984.2:c.1147C>T	NP_001341913.1:p.Leu383Phe
NM_002011.5:c.1147C>T	NP_002002.3:p.Leu383Phe