Canonical Allele Identifier: CA429536086

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 1355602
• ClinVar RCV Id: RCV001888082
• dbSNP Id: rs1682828092
• gnomAD v4: 2-162282481-T-C
• MyVariant Identifiers: chr2:g.163138991T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282481T>C , CM000664.2:g.162282481T>C	GRCh38
NC_000002.11:g.163138991T>C , CM000664.1:g.163138991T>C	GRCh37
NC_000002.10:g.162847237T>C	NCBI36
NG_011495.1:g.41049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*788A>G	ENSP00000513228.1:n.*788A>G
ENST00000648433.1:c.1191A>G	ENSP00000496816.1:p.Lys397=
ENST00000649554.1:n.801A>G
ENST00000649979.2:c.1191A>G MANE Select	ENSP00000497271.1:p.Lys397=
ENST00000679938.1:c.879A>G	ENSP00000505518.1:p.Lys293=
ENST00000263642.2:c.1191A>G	ENSP00000263642.2:p.Lys397=
NM_022168.3:c.1191A>G	NP_071451.2:p.Lys397=
XM_011511628.1:c.474A>G	XP_011509930.1:p.Lys158=
XM_011511629.1:c.1191A>G	XP_011509931.1:p.Lys397=
NM_022168.4:c.1191A>G MANE Select	NP_071451.2:p.Lys397=