Canonical Allele Identifier: CA348989891

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163124044T>G (hg19) ; chr2:g.162267534T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267534T>G , CM000664.2:g.162267534T>G	GRCh38
NC_000002.11:g.163124044T>G , CM000664.1:g.163124044T>G	GRCh37
NC_000002.10:g.162832290T>G	NCBI36
NG_011495.1:g.55996A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2440A>C	ENSP00000513228.1:n.*2440A>C
ENST00000648433.1:c.2726A>C	ENSP00000496816.1:p.Gln909Pro
ENST00000649426.1:n.604A>C
ENST00000649554.1:n.2453A>C
ENST00000649979.2:c.2843A>C MANE Select	ENSP00000497271.1:p.Gln948Pro
ENST00000679938.1:c.2531A>C	ENSP00000505518.1:p.Gln844Pro
ENST00000263642.2:c.2843A>C	ENSP00000263642.2:p.Gln948Pro
NM_022168.3:c.2843A>C	NP_071451.2:p.Gln948Pro
XM_011511628.1:c.2126A>C	XP_011509930.1:p.Gln709Pro
NM_022168.4:c.2843A>C MANE Select	NP_071451.2:p.Gln948Pro