Canonical Allele Identifier: CA348989912

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163124050G>C (hg19) ; chr2:g.162267540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267540G>C , CM000664.2:g.162267540G>C	GRCh38
NC_000002.11:g.163124050G>C , CM000664.1:g.163124050G>C	GRCh37
NC_000002.10:g.162832296G>C	NCBI36
NG_011495.1:g.55990C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2434C>G	ENSP00000513228.1:n.*2434C>G
ENST00000648433.1:c.2720C>G	ENSP00000496816.1:p.Ala907Gly
ENST00000649426.1:n.598C>G
ENST00000649554.1:n.2447C>G
ENST00000649979.2:c.2837C>G MANE Select	ENSP00000497271.1:p.Ala946Gly
ENST00000679938.1:c.2525C>G	ENSP00000505518.1:p.Ala842Gly
ENST00000263642.2:c.2837C>G	ENSP00000263642.2:p.Ala946Gly
NM_022168.3:c.2837C>G	NP_071451.2:p.Ala946Gly
XM_011511628.1:c.2120C>G	XP_011509930.1:p.Ala707Gly
NM_022168.4:c.2837C>G MANE Select	NP_071451.2:p.Ala946Gly