Canonical Allele Identifier: CA348990413

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162268092-T-A
• MyVariant Identifiers: chr2:g.163124602T>A (hg19) ; chr2:g.162268092T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162268092T>A , CM000664.2:g.162268092T>A	GRCh38
NC_000002.11:g.163124602T>A , CM000664.1:g.163124602T>A	GRCh37
NC_000002.10:g.162832848T>A	NCBI36
NG_011495.1:g.55438A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2399A>T	ENSP00000513228.1:n.*2399A>T
ENST00000648433.1:c.2685A>T	ENSP00000496816.1:p.Glu895Asp
ENST00000649426.1:n.46A>T
ENST00000649554.1:n.2412A>T
ENST00000649979.2:c.2802A>T MANE Select	ENSP00000497271.1:p.Glu934Asp
ENST00000679938.1:c.2490A>T	ENSP00000505518.1:p.Glu830Asp
ENST00000263642.2:c.2802A>T	ENSP00000263642.2:p.Glu934Asp
NM_022168.3:c.2802A>T	NP_071451.2:p.Glu934Asp
XM_011511628.1:c.2085A>T	XP_011509930.1:p.Glu695Asp
NM_022168.4:c.2802A>T MANE Select	NP_071451.2:p.Glu934Asp