Canonical Allele Identifier: CA1934645

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 541789
• ClinVar RCV Id: RCV000652112 ; RCV001703226 ; RCV001726294 ; RCV002499123 ; RCV003965398
• dbSNP Id: rs72650664
• ExAC: 2:163144694 T / C
• gnomAD v2: 2-163144694-T-C
• gnomAD v3: 2-162288184-T-C
• gnomAD v4: 2-162288184-T-C
• MyVariant Identifiers: chr2:g.163144694T>C (hg19) ; chr2:g.162288184T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162288184T>C , CM000664.2:g.162288184T>C	GRCh38
NC_000002.11:g.163144694T>C , CM000664.1:g.163144694T>C	GRCh37
NC_000002.10:g.162852940T>C	NCBI36
NG_011495.1:g.35346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*643A>G	ENSP00000513228.1:n.*643A>G
ENST00000648433.1:c.1046A>G	ENSP00000496816.1:p.Lys349Arg
ENST00000649554.1:n.656A>G
ENST00000649979.2:c.1046A>G MANE Select	ENSP00000497271.1:p.Lys349Arg
ENST00000679938.1:c.734A>G	ENSP00000505518.1:p.Lys245Arg
ENST00000263642.2:c.1046A>G	ENSP00000263642.2:p.Lys349Arg
NM_022168.3:c.1046A>G	NP_071451.2:p.Lys349Arg
XM_011511628.1:c.329A>G	XP_011509930.1:p.Lys110Arg
XM_011511629.1:c.1046A>G	XP_011509931.1:p.Lys349Arg
NM_022168.4:c.1046A>G MANE Select	NP_071451.2:p.Lys349Arg