Canonical Allele Identifier: CA16603898

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 393285
• ClinVar RCV Id: RCV000428343 ; RCV002298591
• dbSNP Id: rs746025085
• gnomAD v4: 2-162282443-A-G
• MyVariant Identifiers: chr2:g.163138953A>G (hg19) ; chr2:g.162282443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282443A>G , CM000664.2:g.162282443A>G	GRCh38
NC_000002.11:g.163138953A>G , CM000664.1:g.163138953A>G	GRCh37
NC_000002.10:g.162847199A>G	NCBI36
NG_011495.1:g.41087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*826T>C	ENSP00000513228.1:n.*826T>C
ENST00000648433.1:c.1229T>C	ENSP00000496816.1:p.Ile410Thr
ENST00000649554.1:n.839T>C
ENST00000649979.2:c.1229T>C MANE Select	ENSP00000497271.1:p.Ile410Thr
ENST00000679938.1:c.917T>C	ENSP00000505518.1:p.Ile306Thr
ENST00000263642.2:c.1229T>C	ENSP00000263642.2:p.Ile410Thr
NM_022168.3:c.1229T>C	NP_071451.2:p.Ile410Thr
XM_011511628.1:c.512T>C	XP_011509930.1:p.Ile171Thr
XM_011511629.1:c.1229T>C	XP_011509931.1:p.Ile410Thr
NM_022168.4:c.1229T>C MANE Select	NP_071451.2:p.Ile410Thr