Canonical Allele Identifier: CA537507540

Gene: IFIH1

Linked Data

• dbSNP Id: rs1187778284
• gnomAD v2: 2-163138949-GATA-G
• gnomAD v3: 2-162282439-GATA-G
• gnomAD v4: 2-162282439-GATA-G
• COSMIC: COSM4969632
• MyVariant Identifiers: chr2:g.163138950_163138952del (hg19) ; chr2:g.162282440_162282442del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282446_162282448del , CM000664.2:g.162282446_162282448del	GRCh38
NC_000002.11:g.163138956_163138958del , CM000664.1:g.163138956_163138958del	GRCh37
NC_000002.10:g.162847202_162847204del	NCBI36
NG_011495.1:g.41088_41090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*827_*829del	ENSP00000513228.1:n.*827_*829del
ENST00000648433.1:c.1230_1232del	ENSP00000496816.1:p.Ile411del
ENST00000649554.1:n.840_842del
ENST00000649979.2:c.1230_1232del MANE Select	ENSP00000497271.1:p.Ile411del
ENST00000679938.1:c.918_920del	ENSP00000505518.1:p.Ile307del
ENST00000263642.2:c.1230_1232del	ENSP00000263642.2:p.Ile411del
NM_022168.3:c.1230_1232del	NP_071451.2:p.Ile411del
XM_011511628.1:c.513_515del	XP_011509930.1:p.Ile172del
XM_011511629.1:c.1230_1232del	XP_011509931.1:p.Ile411del
NM_022168.4:c.1230_1232del MANE Select	NP_071451.2:p.Ile411del