Canonical Allele Identifier: CA1038596127

Gene: IFIH1

Linked Data

• dbSNP Id: rs1682812492
• gnomAD v3: 2-162281640-C-CT
• gnomAD v4: 2-162281640-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281642dup , CM000664.2:g.162281642dup	GRCh38
NC_000002.11:g.163138152dup , CM000664.1:g.163138152dup	GRCh37
NC_000002.10:g.162846398dup	NCBI36
NG_011495.1:g.41889dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*904-96dup	ENSP00000513228.1:n.*904-96dup
ENST00000648433.1:c.1307-96dup	ENSP00000496816.1:n.1307-96dup
ENST00000649554.1:n.917-96dup
ENST00000649979.2:c.1307-96dup MANE Select	ENSP00000497271.1:n.1307-96dup
ENST00000679938.1:c.995-96dup	ENSP00000505518.1:n.995-96dup
ENST00000263642.2:c.1307-96dup	ENSP00000263642.2:n.1307-96dup
NM_022168.3:c.1307-96dup	NP_071451.2:n.1307-96dup
XM_011511628.1:c.590-96dup	XP_011509930.1:n.590-96dup
XM_011511629.1:c.1307-96dup	XP_011509931.1:n.1307-96dup
NM_022168.4:c.1307-96dup MANE Select	NP_071451.2:n.1307-96dup