Canonical Allele Identifier: CA349002992

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163139029A>T (hg19) ; chr2:g.162282519A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282519A>T , CM000664.2:g.162282519A>T	GRCh38
NC_000002.11:g.163139029A>T , CM000664.1:g.163139029A>T	GRCh37
NC_000002.10:g.162847275A>T	NCBI36
NG_011495.1:g.41011T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*750T>A	ENSP00000513228.1:n.*750T>A
ENST00000648433.1:c.1153T>A	ENSP00000496816.1:p.Tyr385Asn
ENST00000649554.1:n.763T>A
ENST00000649979.2:c.1153T>A MANE Select	ENSP00000497271.1:p.Tyr385Asn
ENST00000679938.1:c.841T>A	ENSP00000505518.1:p.Tyr281Asn
ENST00000263642.2:c.1153T>A	ENSP00000263642.2:p.Tyr385Asn
NM_022168.3:c.1153T>A	NP_071451.2:p.Tyr385Asn
XM_011511628.1:c.436T>A	XP_011509930.1:p.Tyr146Asn
XM_011511629.1:c.1153T>A	XP_011509931.1:p.Tyr385Asn
NM_022168.4:c.1153T>A MANE Select	NP_071451.2:p.Tyr385Asn