Canonical Allele Identifier: CA349002308

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163137943T>A (hg19) ; chr2:g.162281433T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281433T>A , CM000664.2:g.162281433T>A	GRCh38
NC_000002.11:g.163137943T>A , CM000664.1:g.163137943T>A	GRCh37
NC_000002.10:g.162846189T>A	NCBI36
NG_011495.1:g.42097A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*1016A>T	ENSP00000513228.1:n.*1016A>T
ENST00000648433.1:c.1419A>T	ENSP00000496816.1:p.Lys473Asn
ENST00000649554.1:n.1029A>T
ENST00000649979.2:c.1419A>T MANE Select	ENSP00000497271.1:p.Lys473Asn
ENST00000679938.1:c.1107A>T	ENSP00000505518.1:p.Lys369Asn
ENST00000263642.2:c.1419A>T	ENSP00000263642.2:p.Lys473Asn
NM_022168.3:c.1419A>T	NP_071451.2:p.Lys473Asn
XM_011511628.1:c.702A>T	XP_011509930.1:p.Lys234Asn
XM_011511629.1:c.1419A>T	XP_011509931.1:p.Lys473Asn
NM_022168.4:c.1419A>T MANE Select	NP_071451.2:p.Lys473Asn