Canonical Allele Identifier: CA1934035

Gene: IFIH1

Linked Data

• dbSNP Id: rs779990782
• ExAC: 2:163123960 T / C
• gnomAD v2: 2-163123960-T-C
• gnomAD v4: 2-162267450-T-C
• MyVariant Identifiers: chr2:g.163123960T>C (hg19) ; chr2:g.162267450T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267450T>C , CM000664.2:g.162267450T>C	GRCh38
NC_000002.11:g.163123960T>C , CM000664.1:g.163123960T>C	GRCh37
NC_000002.10:g.162832206T>C	NCBI36
NG_011495.1:g.56080A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2495+29A>G	ENSP00000513228.1:n.*2495+29A>G
ENST00000648433.1:c.2781+29A>G	ENSP00000496816.1:n.2781+29A>G
ENST00000649426.1:n.659+29A>G
ENST00000649554.1:n.2508+29A>G
ENST00000649979.2:c.2898+29A>G MANE Select	ENSP00000497271.1:n.2898+29A>G
ENST00000679938.1:c.2586+29A>G	ENSP00000505518.1:n.2586+29A>G
ENST00000263642.2:c.2898+29A>G	ENSP00000263642.2:n.2898+29A>G
NM_022168.3:c.2898+29A>G	NP_071451.2:n.2898+29A>G
XM_011511628.1:c.2181+29A>G	XP_011509930.1:n.2181+29A>G
NM_022168.4:c.2898+29A>G MANE Select	NP_071451.2:n.2898+29A>G