Canonical Allele Identifier: CA349002847

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163138974A>C (hg19) ; chr2:g.162282464A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282464A>C , CM000664.2:g.162282464A>C	GRCh38
NC_000002.11:g.163138974A>C , CM000664.1:g.163138974A>C	GRCh37
NC_000002.10:g.162847220A>C	NCBI36
NG_011495.1:g.41066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*805T>G	ENSP00000513228.1:n.*805T>G
ENST00000648433.1:c.1208T>G	ENSP00000496816.1:p.Val403Gly
ENST00000649554.1:n.818T>G
ENST00000649979.2:c.1208T>G MANE Select	ENSP00000497271.1:p.Val403Gly
ENST00000679938.1:c.896T>G	ENSP00000505518.1:p.Val299Gly
ENST00000263642.2:c.1208T>G	ENSP00000263642.2:p.Val403Gly
NM_022168.3:c.1208T>G	NP_071451.2:p.Val403Gly
XM_011511628.1:c.491T>G	XP_011509930.1:p.Val164Gly
XM_011511629.1:c.1208T>G	XP_011509931.1:p.Val403Gly
NM_022168.4:c.1208T>G MANE Select	NP_071451.2:p.Val403Gly