Canonical Allele Identifier: CA163190

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 137622
• ClinVar RCV Id: RCV000125471 ; RCV000412770 ; RCV000626957 ; RCV000763454 ; RCV001770100 ; RCV003989322
• dbSNP Id: rs587777446
• gnomAD v2: 2-163130423-C-T
• gnomAD v4: 2-162273913-C-T
• COSMIC: COSM6154565
• MyVariant Identifiers: chr2:g.163130423C>T (hg19) ; chr2:g.162273913C>T (hg38)
• PubMed: PMID:24686847 ; PMID:24995871

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162273913C>T , CM000664.2:g.162273913C>T	GRCh38
NC_000002.11:g.163130423C>T , CM000664.1:g.163130423C>T	GRCh37
NC_000002.10:g.162838669C>T	NCBI36
NG_011495.1:g.49617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*1933G>A	ENSP00000513228.1:n.*1933G>A
ENST00000648433.1:c.2219G>A	ENSP00000496816.1:p.Arg740His
ENST00000649554.1:n.1946G>A
ENST00000649979.2:c.2336G>A MANE Select	ENSP00000497271.1:p.Arg779His
ENST00000679938.1:c.2024G>A	ENSP00000505518.1:p.Arg675His
ENST00000263642.2:c.2336G>A	ENSP00000263642.2:p.Arg779His
NM_022168.3:c.2336G>A	NP_071451.2:p.Arg779His
XM_011511628.1:c.1619G>A	XP_011509930.1:p.Arg540His
NM_022168.4:c.2336G>A MANE Select	NP_071451.2:p.Arg779His