Canonical Allele Identifier: CA349002491

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163137996T>A (hg19) ; chr2:g.162281486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281486T>A , CM000664.2:g.162281486T>A	GRCh38
NC_000002.11:g.163137996T>A , CM000664.1:g.163137996T>A	GRCh37
NC_000002.10:g.162846242T>A	NCBI36
NG_011495.1:g.42044A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*963A>T	ENSP00000513228.1:n.*963A>T
ENST00000648433.1:c.1366A>T	ENSP00000496816.1:p.Asn456Tyr
ENST00000649554.1:n.976A>T
ENST00000649979.2:c.1366A>T MANE Select	ENSP00000497271.1:p.Asn456Tyr
ENST00000679938.1:c.1054A>T	ENSP00000505518.1:p.Asn352Tyr
ENST00000263642.2:c.1366A>T	ENSP00000263642.2:p.Asn456Tyr
NM_022168.3:c.1366A>T	NP_071451.2:p.Asn456Tyr
XM_011511628.1:c.649A>T	XP_011509930.1:p.Asn217Tyr
XM_011511629.1:c.1366A>T	XP_011509931.1:p.Asn456Tyr
NM_022168.4:c.1366A>T MANE Select	NP_071451.2:p.Asn456Tyr