Canonical Allele Identifier: CA1038594240

Gene: IFIH1

Linked Data

• dbSNP Id: rs1213514262
• gnomAD v3: 2-162275799-CT-C
• gnomAD v4: 2-162275799-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162275806del , CM000664.2:g.162275806del	GRCh38
NC_000002.11:g.163132316del , CM000664.1:g.163132316del	GRCh37
NC_000002.10:g.162840562del	NCBI36
NG_011495.1:g.47730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*1901+887del	ENSP00000513228.1:n.*1901+887del
ENST00000648433.1:c.2187+887del	ENSP00000496816.1:n.2187+887del
ENST00000649554.1:n.1914+887del
ENST00000649979.2:c.2304+887del MANE Select	ENSP00000497271.1:n.2304+887del
ENST00000679938.1:c.1992+887del	ENSP00000505518.1:n.1992+887del
ENST00000263642.2:c.2304+887del	ENSP00000263642.2:n.2304+887del
NM_022168.3:c.2304+887del	NP_071451.2:n.2304+887del
XM_011511628.1:c.1587+887del	XP_011509930.1:n.1587+887del
NM_022168.4:c.2304+887del MANE Select	NP_071451.2:n.2304+887del