Canonical Allele Identifier: CA59652359

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 2157801
• ClinVar RCV Id: RCV003079672
• dbSNP Id: rs369102839
• gnomAD v2: 2-163123970-C-G
• gnomAD v4: 2-162267460-C-G
• MyVariant Identifiers: chr2:g.163123970C>G (hg19) ; chr2:g.162267460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267460C>G , CM000664.2:g.162267460C>G	GRCh38
NC_000002.11:g.163123970C>G , CM000664.1:g.163123970C>G	GRCh37
NC_000002.10:g.162832216C>G	NCBI36
NG_011495.1:g.56070G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2495+19G>C	ENSP00000513228.1:n.*2495+19G>C
ENST00000648433.1:c.2781+19G>C	ENSP00000496816.1:n.2781+19G>C
ENST00000649426.1:n.659+19G>C
ENST00000649554.1:n.2508+19G>C
ENST00000649979.2:c.2898+19G>C MANE Select	ENSP00000497271.1:n.2898+19G>C
ENST00000679938.1:c.2586+19G>C	ENSP00000505518.1:n.2586+19G>C
ENST00000263642.2:c.2898+19G>C	ENSP00000263642.2:n.2898+19G>C
NM_022168.3:c.2898+19G>C	NP_071451.2:n.2898+19G>C
XM_011511628.1:c.2181+19G>C	XP_011509930.1:n.2181+19G>C
NM_022168.4:c.2898+19G>C MANE Select	NP_071451.2:n.2898+19G>C