Canonical Allele Identifier: CA349003065

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163139043A>G (hg19) ; chr2:g.162282533A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282533A>G , CM000664.2:g.162282533A>G	GRCh38
NC_000002.11:g.163139043A>G , CM000664.1:g.163139043A>G	GRCh37
NC_000002.10:g.162847289A>G	NCBI36
NG_011495.1:g.40997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*736T>C	ENSP00000513228.1:n.*736T>C
ENST00000648433.1:c.1139T>C	ENSP00000496816.1:p.Phe380Ser
ENST00000649554.1:n.749T>C
ENST00000649979.2:c.1139T>C MANE Select	ENSP00000497271.1:p.Phe380Ser
ENST00000679938.1:c.827T>C	ENSP00000505518.1:p.Phe276Ser
ENST00000263642.2:c.1139T>C	ENSP00000263642.2:p.Phe380Ser
NM_022168.3:c.1139T>C	NP_071451.2:p.Phe380Ser
XM_011511628.1:c.422T>C	XP_011509930.1:p.Phe141Ser
XM_011511629.1:c.1139T>C	XP_011509931.1:p.Phe380Ser
NM_022168.4:c.1139T>C MANE Select	NP_071451.2:p.Phe380Ser