Canonical Allele Identifier: CA759857621

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 1494333
• ClinVar RCV Id: RCV001989272
• dbSNP Id: rs1180019447
• gnomAD v4: 2-162282400-CA-C
• MyVariant Identifiers: chr2:g.163138911del (hg19) ; chr2:g.162282401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282402del , CM000664.2:g.162282402del	GRCh38
NC_000002.11:g.163138912del , CM000664.1:g.163138912del	GRCh37
NC_000002.10:g.162847158del	NCBI36
NG_011495.1:g.41129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*868del	ENSP00000513228.1:n.*868del
ENST00000648433.1:c.1271del	ENSP00000496816.1:p.Leu424TrpfsTer?
ENST00000649554.1:n.881del
ENST00000649979.2:c.1271del MANE Select	ENSP00000497271.1:p.Leu424TrpfsTer?
ENST00000679938.1:c.959del	ENSP00000505518.1:p.Leu320TrpfsTer?
ENST00000263642.2:c.1271del	ENSP00000263642.2:p.Leu424TrpfsTer?
NM_022168.3:c.1271del	NP_071451.2:p.Leu424TrpfsTer?
XM_011511628.1:c.554del	XP_011509930.1:p.Leu185TrpfsTer?
XM_011511629.1:c.1271del	XP_011509931.1:p.Leu424TrpfsTer?
NM_022168.4:c.1271del MANE Select	NP_071451.2:p.Leu424TrpfsTer?