Canonical Allele Identifier: CA348990044

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163124062C>T (hg19) ; chr2:g.162267552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267552C>T , CM000664.2:g.162267552C>T	GRCh38
NC_000002.11:g.163124062C>T , CM000664.1:g.163124062C>T	GRCh37
NC_000002.10:g.162832308C>T	NCBI36
NG_011495.1:g.55978G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2422G>A	ENSP00000513228.1:n.*2422G>A
ENST00000648433.1:c.2708G>A	ENSP00000496816.1:p.Arg903Lys
ENST00000649426.1:n.586G>A
ENST00000649554.1:n.2435G>A
ENST00000649979.2:c.2825G>A MANE Select	ENSP00000497271.1:p.Arg942Lys
ENST00000679938.1:c.2513G>A	ENSP00000505518.1:p.Arg838Lys
ENST00000263642.2:c.2825G>A	ENSP00000263642.2:p.Arg942Lys
NM_022168.3:c.2825G>A	NP_071451.2:p.Arg942Lys
XM_011511628.1:c.2108G>A	XP_011509930.1:p.Arg703Lys
NM_022168.4:c.2825G>A MANE Select	NP_071451.2:p.Arg942Lys