Canonical Allele Identifier: CA348990332

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162268086-C-G
• MyVariant Identifiers: chr2:g.163124596C>G (hg19) ; chr2:g.162268086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162268086C>G , CM000664.2:g.162268086C>G	GRCh38
NC_000002.11:g.163124596C>G , CM000664.1:g.163124596C>G	GRCh37
NC_000002.10:g.162832842C>G	NCBI36
NG_011495.1:g.55444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2404+1G>C	ENSP00000513228.1:n.*2404+1G>C
ENST00000648433.1:c.2690+1G>C	ENSP00000496816.1:n.2690+1G>C
ENST00000649426.1:n.52G>C
ENST00000649554.1:n.2417+1G>C
ENST00000649979.2:c.2807+1G>C MANE Select	ENSP00000497271.1:n.2807+1G>C
ENST00000679938.1:c.2495+1G>C	ENSP00000505518.1:n.2495+1G>C
ENST00000263642.2:c.2807+1G>C	ENSP00000263642.2:n.2807+1G>C
NM_022168.3:c.2807+1G>C	NP_071451.2:n.2807+1G>C
XM_011511628.1:c.2090+1G>C	XP_011509930.1:n.2090+1G>C
NM_022168.4:c.2807+1G>C MANE Select	NP_071451.2:n.2807+1G>C