Canonical Allele Identifier: CA348990497

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162268100-T-C
• MyVariant Identifiers: chr2:g.163124610T>C (hg19) ; chr2:g.162268100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162268100T>C , CM000664.2:g.162268100T>C	GRCh38
NC_000002.11:g.163124610T>C , CM000664.1:g.163124610T>C	GRCh37
NC_000002.10:g.162832856T>C	NCBI36
NG_011495.1:g.55430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2391A>G	ENSP00000513228.1:n.*2391A>G
ENST00000648433.1:c.2677A>G	ENSP00000496816.1:p.Thr893Ala
ENST00000649426.1:n.38A>G
ENST00000649554.1:n.2404A>G
ENST00000649979.2:c.2794A>G MANE Select	ENSP00000497271.1:p.Thr932Ala
ENST00000679938.1:c.2482A>G	ENSP00000505518.1:p.Thr828Ala
ENST00000263642.2:c.2794A>G	ENSP00000263642.2:p.Thr932Ala
NM_022168.3:c.2794A>G	NP_071451.2:p.Thr932Ala
XM_011511628.1:c.2077A>G	XP_011509930.1:p.Thr693Ala
NM_022168.4:c.2794A>G MANE Select	NP_071451.2:p.Thr932Ala