Canonical Allele Identifier: CA3576374

Gene: FGFR4

Linked Data

• dbSNP Id: rs758122858
• ExAC: 5:176520536 G / T
• gnomAD v2: 5-176520536-G-T
• gnomAD v3: 5-177093535-G-T
• gnomAD v4: 5-177093535-G-T
• MyVariant Identifiers: chr5:g.176520536G>T (hg19) ; chr5:g.177093535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093535G>T , CM000667.2:g.177093535G>T	GRCh38
NC_000005.9:g.176520536G>T , CM000667.1:g.176520536G>T	GRCh37
NC_000005.8:g.176453142G>T	NCBI36
NG_012067.1:g.11616G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1381G>T MANE Select	ENSP00000292408.4:p.Glu461Ter
ENST00000292408.8:c.1381G>T	ENSP00000292408.4:p.Glu461Ter
ENST00000393637.5:c.1261G>T	ENSP00000377254.1:p.Glu421Ter
ENST00000393648.6:c.1193+34G>T	ENSP00000377259.2:n.1193+34G>T
ENST00000502906.5:c.1381G>T	ENSP00000424960.1:p.Glu461Ter
ENST00000511076.1:c.275G>T
NM_001291980.1:c.1193+34G>T	NP_001278909.1:n.1193+34G>T
NM_002011.4:c.1381G>T	NP_002002.3:p.Glu461Ter
NM_022963.3:c.1261G>T	NP_075252.2:p.Glu421Ter
NM_213647.2:c.1381G>T	NP_998812.1:p.Glu461Ter
XM_005265838.2:c.1381G>T	XP_005265895.1:p.Glu461Ter
XM_011534464.1:c.1474G>T	XP_011532766.1:p.Glu492Ter
XM_011534465.1:c.1063G>T	XP_011532767.1:p.Glu355Ter
XR_941090.1:n.1392+34G>T
NM_001354984.1:c.1381G>T	NP_001341913.1:p.Glu461Ter
NM_213647.3:c.1381G>T MANE Select	NP_998812.1:p.Glu461Ter
NM_001291980.2:c.1193+34G>T	NP_001278909.1:n.1193+34G>T
NM_001354984.2:c.1381G>T	NP_001341913.1:p.Glu461Ter
NM_002011.5:c.1381G>T	NP_002002.3:p.Glu461Ter