Canonical Allele Identifier: CA1934617

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 1406483
• ClinVar RCV Id: RCV001935443
• dbSNP Id: rs767226768
• ExAC: 2:163139105 T / C
• gnomAD v2: 2-163139105-T-C
• gnomAD v4: 2-162282595-T-C
• MyVariant Identifiers: chr2:g.163139105T>C (hg19) ; chr2:g.162282595T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282595T>C , CM000664.2:g.162282595T>C	GRCh38
NC_000002.11:g.163139105T>C , CM000664.1:g.163139105T>C	GRCh37
NC_000002.10:g.162847351T>C	NCBI36
NG_011495.1:g.40935A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*693-19A>G	ENSP00000513228.1:n.*693-19A>G
ENST00000648433.1:c.1096-19A>G	ENSP00000496816.1:n.1096-19A>G
ENST00000649554.1:n.706-19A>G
ENST00000649979.2:c.1096-19A>G MANE Select	ENSP00000497271.1:n.1096-19A>G
ENST00000679938.1:c.784-19A>G	ENSP00000505518.1:n.784-19A>G
ENST00000263642.2:c.1096-19A>G	ENSP00000263642.2:n.1096-19A>G
NM_022168.3:c.1096-19A>G	NP_071451.2:n.1096-19A>G
XM_011511628.1:c.379-19A>G	XP_011509930.1:n.379-19A>G
XM_011511629.1:c.1096-19A>G	XP_011509931.1:n.1096-19A>G
NM_022168.4:c.1096-19A>G MANE Select	NP_071451.2:n.1096-19A>G