Canonical Allele Identifier: CA362290928

Gene: FGFR4

Linked Data

• dbSNP Id: rs2149735128
• gnomAD v4: 5-177093195-T-C
• MyVariant Identifiers: chr5:g.176520196T>C (hg19) ; chr5:g.177093195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093195T>C , CM000667.2:g.177093195T>C	GRCh38
NC_000005.9:g.176520196T>C , CM000667.1:g.176520196T>C	GRCh37
NC_000005.8:g.176452802T>C	NCBI36
NG_012067.1:g.11276T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1115T>C MANE Select	ENSP00000292408.4:p.Leu372Pro
ENST00000292408.8:c.1115T>C	ENSP00000292408.4:p.Leu372Pro
ENST00000393637.5:c.1058-137T>C	ENSP00000377254.1:n.1058-137T>C
ENST00000393648.6:c.1097+18T>C	ENSP00000377259.2:n.1097+18T>C
ENST00000502906.5:c.1115T>C	ENSP00000424960.1:p.Leu372Pro
ENST00000508139.1:n.419T>C
ENST00000511076.1:c.21T>C
NM_001291980.1:c.1097+18T>C	NP_001278909.1:n.1097+18T>C
NM_002011.4:c.1115T>C	NP_002002.3:p.Leu372Pro
NM_022963.3:c.1058-137T>C	NP_075252.2:n.1058-137T>C
NM_213647.2:c.1115T>C	NP_998812.1:p.Leu372Pro
XM_005265838.2:c.1115T>C	XP_005265895.1:p.Leu372Pro
XM_011534464.1:c.1208T>C	XP_011532766.1:p.Leu403Pro
XM_011534465.1:c.797T>C	XP_011532767.1:p.Leu266Pro
XR_941090.1:n.1160T>C
NM_001354984.1:c.1115T>C	NP_001341913.1:p.Leu372Pro
NM_213647.3:c.1115T>C MANE Select	NP_998812.1:p.Leu372Pro
NM_001291980.2:c.1097+18T>C	NP_001278909.1:n.1097+18T>C
NM_001354984.2:c.1115T>C	NP_001341913.1:p.Leu372Pro
NM_002011.5:c.1115T>C	NP_002002.3:p.Leu372Pro