Canonical Allele Identifier: CA348989941

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163124055G>T (hg19) ; chr2:g.162267545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267545G>T , CM000664.2:g.162267545G>T	GRCh38
NC_000002.11:g.163124055G>T , CM000664.1:g.163124055G>T	GRCh37
NC_000002.10:g.162832301G>T	NCBI36
NG_011495.1:g.55985C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2429C>A	ENSP00000513228.1:n.*2429C>A
ENST00000648433.1:c.2715C>A	ENSP00000496816.1:p.Asn905Lys
ENST00000649426.1:n.593C>A
ENST00000649554.1:n.2442C>A
ENST00000649979.2:c.2832C>A MANE Select	ENSP00000497271.1:p.Asn944Lys
ENST00000679938.1:c.2520C>A	ENSP00000505518.1:p.Asn840Lys
ENST00000263642.2:c.2832C>A	ENSP00000263642.2:p.Asn944Lys
NM_022168.3:c.2832C>A	NP_071451.2:p.Asn944Lys
XM_011511628.1:c.2115C>A	XP_011509930.1:p.Asn705Lys
NM_022168.4:c.2832C>A MANE Select	NP_071451.2:p.Asn944Lys