Canonical Allele Identifier: CA348989637

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162267496-T-C
• MyVariant Identifiers: chr2:g.163124006T>C (hg19) ; chr2:g.162267496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267496T>C , CM000664.2:g.162267496T>C	GRCh38
NC_000002.11:g.163124006T>C , CM000664.1:g.163124006T>C	GRCh37
NC_000002.10:g.162832252T>C	NCBI36
NG_011495.1:g.56034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2478A>G	ENSP00000513228.1:n.*2478A>G
ENST00000648433.1:c.2764A>G	ENSP00000496816.1:p.Ile922Val
ENST00000649426.1:n.642A>G
ENST00000649554.1:n.2491A>G
ENST00000649979.2:c.2881A>G MANE Select	ENSP00000497271.1:p.Ile961Val
ENST00000679938.1:c.2569A>G	ENSP00000505518.1:p.Ile857Val
ENST00000263642.2:c.2881A>G	ENSP00000263642.2:p.Ile961Val
NM_022168.3:c.2881A>G	NP_071451.2:p.Ile961Val
XM_011511628.1:c.2164A>G	XP_011509930.1:p.Ile722Val
NM_022168.4:c.2881A>G MANE Select	NP_071451.2:p.Ile961Val