Canonical Allele Identifier: CA1038596043

Gene: IFIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281416dup , CM000664.2:g.162281416dup	GRCh38
NC_000002.11:g.163137926dup , CM000664.1:g.163137926dup	GRCh37
NC_000002.10:g.162846172dup	NCBI36
NG_011495.1:g.42115dup

Transcript Alleles

HGVS	Amino-acid Change
NM_022168.4:c.1437dup MANE Select	NP_071451.2:p.Pro480SerfsTer24
ENST00000649979.2:c.1437dup MANE Select	ENSP00000497271.1:p.Pro480SerfsTer24
NM_022168.3:c.1437dup	NP_071451.2:p.Pro480SerfsTer24
ENST00000263642.2:c.1437dup	ENSP00000263642.2:p.Pro480SerfsTer24
ENST00000648433.1:c.1437dup	ENSP00000496816.1:p.Pro480SerfsTer24
ENST00000649554.1:n.1047dup
ENST00000679938.1:c.1125dup	ENSP00000505518.1:p.Pro376SerfsTer24
ENST00000697291.1:c.*1034dup	ENSP00000513228.1:n.*1034dup
XM_011511628.1:c.720dup	XP_011509930.1:p.Pro241SerfsTer24
XM_011511629.1:c.1437dup	XP_011509931.1:p.Pro480SerfsTer24