Canonical Allele Identifier: CA348989553

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163123989C>A (hg19) ; chr2:g.162267479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267479C>A , CM000664.2:g.162267479C>A	GRCh38
NC_000002.11:g.163123989C>A , CM000664.1:g.163123989C>A	GRCh37
NC_000002.10:g.162832235C>A	NCBI36
NG_011495.1:g.56051G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2495G>T	ENSP00000513228.1:n.*2495G>T
ENST00000648433.1:c.2781G>T	ENSP00000496816.1:p.Gln927His
ENST00000649426.1:n.659G>T
ENST00000649554.1:n.2508G>T
ENST00000649979.2:c.2898G>T MANE Select	ENSP00000497271.1:p.Gln966His
ENST00000679938.1:c.2586G>T	ENSP00000505518.1:p.Gln862His
ENST00000263642.2:c.2898G>T	ENSP00000263642.2:p.Gln966His
NM_022168.3:c.2898G>T	NP_071451.2:p.Gln966His
XM_011511628.1:c.2181G>T	XP_011509930.1:p.Gln727His
NM_022168.4:c.2898G>T MANE Select	NP_071451.2:p.Gln966His