Canonical Allele Identifier: CA429535677

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163137913C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281403C>T , CM000664.2:g.162281403C>T	GRCh38
NC_000002.11:g.163137913C>T , CM000664.1:g.163137913C>T	GRCh37
NC_000002.10:g.162846159C>T	NCBI36
NG_011495.1:g.42127G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*1046G>A	ENSP00000513228.1:n.*1046G>A
ENST00000648433.1:c.1449G>A	ENSP00000496816.1:p.Gln483=
ENST00000649554.1:n.1059G>A
ENST00000649979.2:c.1449G>A MANE Select	ENSP00000497271.1:p.Gln483=
ENST00000679938.1:c.1137G>A	ENSP00000505518.1:p.Gln379=
ENST00000263642.2:c.1449G>A	ENSP00000263642.2:p.Gln483=
NM_022168.3:c.1449G>A	NP_071451.2:p.Gln483=
XM_011511628.1:c.732G>A	XP_011509930.1:p.Gln244=
XM_011511629.1:c.1449G>A	XP_011509931.1:p.Gln483=
NM_022168.4:c.1449G>A MANE Select	NP_071451.2:p.Gln483=