Canonical Allele Identifier: CA349002153

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163137908A>T (hg19) ; chr2:g.162281398A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281398A>T , CM000664.2:g.162281398A>T	GRCh38
NC_000002.11:g.163137908A>T , CM000664.1:g.163137908A>T	GRCh37
NC_000002.10:g.162846154A>T	NCBI36
NG_011495.1:g.42132T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*1051T>A	ENSP00000513228.1:n.*1051T>A
ENST00000648433.1:c.1454T>A	ENSP00000496816.1:p.Leu485Gln
ENST00000649554.1:n.1064T>A
ENST00000649979.2:c.1454T>A MANE Select	ENSP00000497271.1:p.Leu485Gln
ENST00000679938.1:c.1142T>A	ENSP00000505518.1:p.Leu381Gln
ENST00000263642.2:c.1454T>A	ENSP00000263642.2:p.Leu485Gln
NM_022168.3:c.1454T>A	NP_071451.2:p.Leu485Gln
XM_011511628.1:c.737T>A	XP_011509930.1:p.Leu246Gln
XM_011511629.1:c.1454T>A	XP_011509931.1:p.Leu485Gln
NM_022168.4:c.1454T>A MANE Select	NP_071451.2:p.Leu485Gln