Canonical Allele Identifier: CA348990047

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163124063T>A (hg19) ; chr2:g.162267553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267553T>A , CM000664.2:g.162267553T>A	GRCh38
NC_000002.11:g.163124063T>A , CM000664.1:g.163124063T>A	GRCh37
NC_000002.10:g.162832309T>A	NCBI36
NG_011495.1:g.55977A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2421A>T	ENSP00000513228.1:n.*2421A>T
ENST00000648433.1:c.2707A>T	ENSP00000496816.1:p.Arg903Ter
ENST00000649426.1:n.585A>T
ENST00000649554.1:n.2434A>T
ENST00000649979.2:c.2824A>T MANE Select	ENSP00000497271.1:p.Arg942Ter
ENST00000679938.1:c.2512A>T	ENSP00000505518.1:p.Arg838Ter
ENST00000263642.2:c.2824A>T	ENSP00000263642.2:p.Arg942Ter
NM_022168.3:c.2824A>T	NP_071451.2:p.Arg942Ter
XM_011511628.1:c.2107A>T	XP_011509930.1:p.Arg703Ter
NM_022168.4:c.2824A>T MANE Select	NP_071451.2:p.Arg942Ter