Canonical Allele Identifier: CA348989939

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 2941757
• ClinVar RCV Id: RCV003802779
• dbSNP Id: rs1218023983
• gnomAD v4: 2-162267545-G-C
• MyVariant Identifiers: chr2:g.163124055G>C (hg19) ; chr2:g.162267545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267545G>C , CM000664.2:g.162267545G>C	GRCh38
NC_000002.11:g.163124055G>C , CM000664.1:g.163124055G>C	GRCh37
NC_000002.10:g.162832301G>C	NCBI36
NG_011495.1:g.55985C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2429C>G	ENSP00000513228.1:n.*2429C>G
ENST00000648433.1:c.2715C>G	ENSP00000496816.1:p.Asn905Lys
ENST00000649426.1:n.593C>G
ENST00000649554.1:n.2442C>G
ENST00000649979.2:c.2832C>G MANE Select	ENSP00000497271.1:p.Asn944Lys
ENST00000679938.1:c.2520C>G	ENSP00000505518.1:p.Asn840Lys
ENST00000263642.2:c.2832C>G	ENSP00000263642.2:p.Asn944Lys
NM_022168.3:c.2832C>G	NP_071451.2:p.Asn944Lys
XM_011511628.1:c.2115C>G	XP_011509930.1:p.Asn705Lys
NM_022168.4:c.2832C>G MANE Select	NP_071451.2:p.Asn944Lys