Canonical Allele Identifier: CA2580064153

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 2023669
• ClinVar RCV Id: RCV002858123
• gnomAD v4: 2-162267475-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267475T>C , CM000664.2:g.162267475T>C	GRCh38
NC_000002.11:g.163123985T>C , CM000664.1:g.163123985T>C	GRCh37
NC_000002.10:g.162832231T>C	NCBI36
NG_011495.1:g.56055A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2495+4A>G	ENSP00000513228.1:n.*2495+4A>G
ENST00000648433.1:c.2781+4A>G	ENSP00000496816.1:n.2781+4A>G
ENST00000649426.1:n.659+4A>G
ENST00000649554.1:n.2508+4A>G
ENST00000649979.2:c.2898+4A>G MANE Select	ENSP00000497271.1:n.2898+4A>G
ENST00000679938.1:c.2586+4A>G	ENSP00000505518.1:n.2586+4A>G
ENST00000263642.2:c.2898+4A>G	ENSP00000263642.2:n.2898+4A>G
NM_022168.3:c.2898+4A>G	NP_071451.2:n.2898+4A>G
XM_011511628.1:c.2181+4A>G	XP_011509930.1:n.2181+4A>G
NM_022168.4:c.2898+4A>G MANE Select	NP_071451.2:n.2898+4A>G