Canonical Allele Identifier: CA348989915

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162267541-C-G
• MyVariant Identifiers: chr2:g.163124051C>G (hg19) ; chr2:g.162267541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267541C>G , CM000664.2:g.162267541C>G	GRCh38
NC_000002.11:g.163124051C>G , CM000664.1:g.163124051C>G	GRCh37
NC_000002.10:g.162832297C>G	NCBI36
NG_011495.1:g.55989G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2433G>C	ENSP00000513228.1:n.*2433G>C
ENST00000648433.1:c.2719G>C	ENSP00000496816.1:p.Ala907Pro
ENST00000649426.1:n.597G>C
ENST00000649554.1:n.2446G>C
ENST00000649979.2:c.2836G>C MANE Select	ENSP00000497271.1:p.Ala946Pro
ENST00000679938.1:c.2524G>C	ENSP00000505518.1:p.Ala842Pro
ENST00000263642.2:c.2836G>C	ENSP00000263642.2:p.Ala946Pro
NM_022168.3:c.2836G>C	NP_071451.2:p.Ala946Pro
XM_011511628.1:c.2119G>C	XP_011509930.1:p.Ala707Pro
NM_022168.4:c.2836G>C MANE Select	NP_071451.2:p.Ala946Pro