Canonical Allele Identifier: CA349002474

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163137989A>T (hg19) ; chr2:g.162281479A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281479A>T , CM000664.2:g.162281479A>T	GRCh38
NC_000002.11:g.163137989A>T , CM000664.1:g.163137989A>T	GRCh37
NC_000002.10:g.162846235A>T	NCBI36
NG_011495.1:g.42051T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*970T>A	ENSP00000513228.1:n.*970T>A
ENST00000648433.1:c.1373T>A	ENSP00000496816.1:p.Met458Lys
ENST00000649554.1:n.983T>A
ENST00000649979.2:c.1373T>A MANE Select	ENSP00000497271.1:p.Met458Lys
ENST00000679938.1:c.1061T>A	ENSP00000505518.1:p.Met354Lys
ENST00000263642.2:c.1373T>A	ENSP00000263642.2:p.Met458Lys
NM_022168.3:c.1373T>A	NP_071451.2:p.Met458Lys
XM_011511628.1:c.656T>A	XP_011509930.1:p.Met219Lys
XM_011511629.1:c.1373T>A	XP_011509931.1:p.Met458Lys
NM_022168.4:c.1373T>A MANE Select	NP_071451.2:p.Met458Lys