Canonical Allele Identifier: CA199234

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 189338
• ClinVar RCV Id: RCV000169754 ; RCV000436896 ; RCV000789041 ; RCV000822311
• dbSNP Id: rs376048533
• ExAC: 2:163128887 C / T
• gnomAD v2: 2-163128887-C-T
• gnomAD v4: 2-162272377-C-T
• MyVariant Identifiers: chr2:g.163128887C>T (hg19) ; chr2:g.162272377C>T (hg38)
• PubMed: PMID:21070929 ; PMID:25620204

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162272377C>T , CM000664.2:g.162272377C>T	GRCh38
NC_000002.11:g.163128887C>T , CM000664.1:g.163128887C>T	GRCh37
NC_000002.10:g.162837133C>T	NCBI36
NG_011495.1:g.51153G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2062G>A	ENSP00000513228.1:n.*2062G>A
ENST00000648433.1:c.2348G>A	ENSP00000496816.1:p.Arg783Gln
ENST00000649554.1:n.2075G>A
ENST00000649979.2:c.2465G>A MANE Select	ENSP00000497271.1:p.Arg822Gln
ENST00000679938.1:c.2153G>A	ENSP00000505518.1:p.Arg718Gln
ENST00000263642.2:c.2465G>A	ENSP00000263642.2:p.Arg822Gln
NM_022168.3:c.2465G>A	NP_071451.2:p.Arg822Gln
XM_011511628.1:c.1748G>A	XP_011509930.1:p.Arg583Gln
NM_022168.4:c.2465G>A MANE Select	NP_071451.2:p.Arg822Gln