Canonical Allele Identifier: CA59665106

Gene: IFIH1

Linked Data

• dbSNP Id: rs570214183
• gnomAD v3: 2-162281606-C-T
• gnomAD v4: 2-162281606-C-T
• MyVariant Identifiers: chr2:g.163138116C>T (hg19) ; chr2:g.162281606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281606C>T , CM000664.2:g.162281606C>T	GRCh38
NC_000002.11:g.163138116C>T , CM000664.1:g.163138116C>T	GRCh37
NC_000002.10:g.162846362C>T	NCBI36
NG_011495.1:g.41924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*904-61G>A	ENSP00000513228.1:n.*904-61G>A
ENST00000648433.1:c.1307-61G>A	ENSP00000496816.1:n.1307-61G>A
ENST00000649554.1:n.917-61G>A
ENST00000649979.2:c.1307-61G>A MANE Select	ENSP00000497271.1:n.1307-61G>A
ENST00000679938.1:c.995-61G>A	ENSP00000505518.1:n.995-61G>A
ENST00000263642.2:c.1307-61G>A	ENSP00000263642.2:n.1307-61G>A
NM_022168.3:c.1307-61G>A	NP_071451.2:n.1307-61G>A
XM_011511628.1:c.590-61G>A	XP_011509930.1:n.590-61G>A
XM_011511629.1:c.1307-61G>A	XP_011509931.1:n.1307-61G>A
NM_022168.4:c.1307-61G>A MANE Select	NP_071451.2:n.1307-61G>A