Canonical Allele Identifier: CA59670682

Gene: IFIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162288173C>T , CM000664.2:g.162288173C>T	GRCh38
NC_000002.11:g.163144683C>T , CM000664.1:g.163144683C>T	GRCh37
NC_000002.10:g.162852929C>T	NCBI36
NG_011495.1:g.35357G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022168.4:c.1057G>A MANE Select	NP_071451.2:p.Ala353Thr
ENST00000649979.2:c.1057G>A MANE Select	ENSP00000497271.1:p.Ala353Thr
NM_022168.3:c.1057G>A	NP_071451.2:p.Ala353Thr
ENST00000263642.2:c.1057G>A	ENSP00000263642.2:p.Ala353Thr
ENST00000648433.1:c.1057G>A	ENSP00000496816.1:p.Ala353Thr
ENST00000649554.1:n.667G>A
ENST00000679938.1:c.745G>A	ENSP00000505518.1:p.Ala249Thr
ENST00000697291.1:c.*654G>A	ENSP00000513228.1:n.*654G>A
XM_011511628.1:c.340G>A	XP_011509930.1:p.Ala114Thr
XM_011511629.1:c.1057G>A	XP_011509931.1:p.Ala353Thr