Canonical Allele Identifier: CA2580614373

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 2432799
• ClinVar RCV Id: RCV003131249
• gnomAD v4: 2-162281484-GTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281489_162281491del , CM000664.2:g.162281489_162281491del	GRCh38
NC_000002.11:g.163137999_163138001del , CM000664.1:g.163137999_163138001del	GRCh37
NC_000002.10:g.162846245_162846247del	NCBI36
NG_011495.1:g.42043_42045del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*962_*964del	ENSP00000513228.1:n.*962_*964del
ENST00000648433.1:c.1365_1367del	ENSP00000496816.1:p.Asn456del
ENST00000649554.1:n.975_977del
ENST00000649979.2:c.1365_1367del MANE Select	ENSP00000497271.1:p.Asn456del
ENST00000679938.1:c.1053_1055del	ENSP00000505518.1:p.Asn352del
ENST00000263642.2:c.1365_1367del	ENSP00000263642.2:p.Asn456del
NM_022168.3:c.1365_1367del	NP_071451.2:p.Asn456del
XM_011511628.1:c.648_650del	XP_011509930.1:p.Asn217del
XM_011511629.1:c.1365_1367del	XP_011509931.1:p.Asn456del
NM_022168.4:c.1365_1367del MANE Select	NP_071451.2:p.Asn456del