Canonical Allele Identifier: CA348990440

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 2944261
• ClinVar RCV Id: RCV003806011
• MyVariant Identifiers: chr2:g.163124604C>T (hg19) ; chr2:g.162268094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162268094C>T , CM000664.2:g.162268094C>T	GRCh38
NC_000002.11:g.163124604C>T , CM000664.1:g.163124604C>T	GRCh37
NC_000002.10:g.162832850C>T	NCBI36
NG_011495.1:g.55436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2397G>A	ENSP00000513228.1:n.*2397G>A
ENST00000648433.1:c.2683G>A	ENSP00000496816.1:p.Glu895Lys
ENST00000649426.1:n.44G>A
ENST00000649554.1:n.2410G>A
ENST00000649979.2:c.2800G>A MANE Select	ENSP00000497271.1:p.Glu934Lys
ENST00000679938.1:c.2488G>A	ENSP00000505518.1:p.Glu830Lys
ENST00000263642.2:c.2800G>A	ENSP00000263642.2:p.Glu934Lys
NM_022168.3:c.2800G>A	NP_071451.2:p.Glu934Lys
XM_011511628.1:c.2083G>A	XP_011509930.1:p.Glu695Lys
NM_022168.4:c.2800G>A MANE Select	NP_071451.2:p.Glu934Lys