Canonical Allele Identifier: CA429535745

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 1140281
• ClinVar RCV Id: RCV001477293
• dbSNP Id: rs1682808224
• MyVariant Identifiers: chr2:g.163137994G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281484G>A , CM000664.2:g.162281484G>A	GRCh38
NC_000002.11:g.163137994G>A , CM000664.1:g.163137994G>A	GRCh37
NC_000002.10:g.162846240G>A	NCBI36
NG_011495.1:g.42046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*965C>T	ENSP00000513228.1:n.*965C>T
ENST00000648433.1:c.1368C>T	ENSP00000496816.1:p.Asn456=
ENST00000649554.1:n.978C>T
ENST00000649979.2:c.1368C>T MANE Select	ENSP00000497271.1:p.Asn456=
ENST00000679938.1:c.1056C>T	ENSP00000505518.1:p.Asn352=
ENST00000263642.2:c.1368C>T	ENSP00000263642.2:p.Asn456=
NM_022168.3:c.1368C>T	NP_071451.2:p.Asn456=
XM_011511628.1:c.651C>T	XP_011509930.1:p.Asn217=
XM_011511629.1:c.1368C>T	XP_011509931.1:p.Asn456=
NM_022168.4:c.1368C>T MANE Select	NP_071451.2:p.Asn456=