Canonical Allele Identifier: CA349002740

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162282411-G-T
• MyVariant Identifiers: chr2:g.163138921G>T (hg19) ; chr2:g.162282411G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282411G>T , CM000664.2:g.162282411G>T	GRCh38
NC_000002.11:g.163138921G>T , CM000664.1:g.163138921G>T	GRCh37
NC_000002.10:g.162847167G>T	NCBI36
NG_011495.1:g.41119C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*858C>A	ENSP00000513228.1:n.*858C>A
ENST00000648433.1:c.1261C>A	ENSP00000496816.1:p.Leu421Ile
ENST00000649554.1:n.871C>A
ENST00000649979.2:c.1261C>A MANE Select	ENSP00000497271.1:p.Leu421Ile
ENST00000679938.1:c.949C>A	ENSP00000505518.1:p.Leu317Ile
ENST00000263642.2:c.1261C>A	ENSP00000263642.2:p.Leu421Ile
NM_022168.3:c.1261C>A	NP_071451.2:p.Leu421Ile
XM_011511628.1:c.544C>A	XP_011509930.1:p.Leu182Ile
XM_011511629.1:c.1261C>A	XP_011509931.1:p.Leu421Ile
NM_022168.4:c.1261C>A MANE Select	NP_071451.2:p.Leu421Ile