Canonical Allele Identifier: CA4294425

Gene: EIF4H

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74194806C>T , CM000669.2:g.74194806C>T	GRCh38
NC_000007.13:g.73609136C>T , CM000669.1:g.73609136C>T	GRCh37
NC_000007.12:g.73247072C>T	NCBI36
NG_008869.1:g.25431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265753.13:c.535C>T MANE Select	ENSP00000265753.8:p.Pro179Ser
ENST00000495187.2:n.506C>T
ENST00000677570.1:c.-3C>T	ENSP00000504185.1:n.-3C>T
ENST00000677681.1:c.-3C>T	ENSP00000503379.1:n.-3C>T
ENST00000677998.1:c.475C>T	ENSP00000503362.1:p.Pro159Ser
ENST00000678341.1:c.526C>T	ENSP00000504041.1:p.Pro176Ser
ENST00000678438.1:c.475C>T	ENSP00000504679.1:p.Pro159Ser
ENST00000678815.1:c.*505C>T	ENSP00000504181.1:n.*505C>T
ENST00000679161.1:n.2105C>T
ENST00000679266.1:c.124C>T	ENSP00000503412.1:p.Pro42Ser
ENST00000679287.1:c.-3C>T	ENSP00000503316.1:n.-3C>T
ENST00000265753.12:c.535C>T	ENSP00000265753.8:p.Pro179Ser
ENST00000353999.6:c.475C>T	ENSP00000265754.8:p.Pro159Ser
NM_022170.1:c.535C>T	NP_071496.1:p.Pro179Ser
NM_031992.1:c.475C>T	NP_114381.1:p.Pro159Ser
XM_011516556.1:c.541C>T	XP_011514858.1:p.Pro181Ser
XM_011516557.1:c.481C>T	XP_011514859.1:p.Pro161Ser
NM_022170.2:c.535C>T MANE Select	NP_071496.1:p.Pro179Ser
NM_031992.2:c.475C>T	NP_114381.1:p.Pro159Ser