Canonical Allele Identifier: CA348990423

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163124603T>G (hg19) ; chr2:g.162268093T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162268093T>G , CM000664.2:g.162268093T>G	GRCh38
NC_000002.11:g.163124603T>G , CM000664.1:g.163124603T>G	GRCh37
NC_000002.10:g.162832849T>G	NCBI36
NG_011495.1:g.55437A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2398A>C	ENSP00000513228.1:n.*2398A>C
ENST00000648433.1:c.2684A>C	ENSP00000496816.1:p.Glu895Ala
ENST00000649426.1:n.45A>C
ENST00000649554.1:n.2411A>C
ENST00000649979.2:c.2801A>C MANE Select	ENSP00000497271.1:p.Glu934Ala
ENST00000679938.1:c.2489A>C	ENSP00000505518.1:p.Glu830Ala
ENST00000263642.2:c.2801A>C	ENSP00000263642.2:p.Glu934Ala
NM_022168.3:c.2801A>C	NP_071451.2:p.Glu934Ala
XM_011511628.1:c.2084A>C	XP_011509930.1:p.Glu695Ala
NM_022168.4:c.2801A>C MANE Select	NP_071451.2:p.Glu934Ala