Canonical Allele Identifier: CA429535685

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163137919A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281409A>C , CM000664.2:g.162281409A>C	GRCh38
NC_000002.11:g.163137919A>C , CM000664.1:g.163137919A>C	GRCh37
NC_000002.10:g.162846165A>C	NCBI36
NG_011495.1:g.42121T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*1040T>G	ENSP00000513228.1:n.*1040T>G
ENST00000648433.1:c.1443T>G	ENSP00000496816.1:p.Leu481=
ENST00000649554.1:n.1053T>G
ENST00000649979.2:c.1443T>G MANE Select	ENSP00000497271.1:p.Leu481=
ENST00000679938.1:c.1131T>G	ENSP00000505518.1:p.Leu377=
ENST00000263642.2:c.1443T>G	ENSP00000263642.2:p.Leu481=
NM_022168.3:c.1443T>G	NP_071451.2:p.Leu481=
XM_011511628.1:c.726T>G	XP_011509930.1:p.Leu242=
XM_011511629.1:c.1443T>G	XP_011509931.1:p.Leu481=
NM_022168.4:c.1443T>G MANE Select	NP_071451.2:p.Leu481=