Canonical Allele Identifier: CA537104188

Gene: IFIH1

Linked Data

• dbSNP Id: rs1428239689
• gnomAD v2: 2-163138839-T-C
• gnomAD v4: 2-162282329-T-C
• MyVariant Identifiers: chr2:g.163138839T>C (hg19) ; chr2:g.162282329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282329T>C , CM000664.2:g.162282329T>C	GRCh38
NC_000002.11:g.163138839T>C , CM000664.1:g.163138839T>C	GRCh37
NC_000002.10:g.162847085T>C	NCBI36
NG_011495.1:g.41201A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*903+37A>G	ENSP00000513228.1:n.*903+37A>G
ENST00000648433.1:c.1306+37A>G	ENSP00000496816.1:n.1306+37A>G
ENST00000649554.1:n.916+37A>G
ENST00000649979.2:c.1306+37A>G MANE Select	ENSP00000497271.1:n.1306+37A>G
ENST00000679938.1:c.994+37A>G	ENSP00000505518.1:n.994+37A>G
ENST00000263642.2:c.1306+37A>G	ENSP00000263642.2:n.1306+37A>G
NM_022168.3:c.1306+37A>G	NP_071451.2:n.1306+37A>G
XM_011511628.1:c.589+37A>G	XP_011509930.1:n.589+37A>G
XM_011511629.1:c.1306+37A>G	XP_011509931.1:n.1306+37A>G
NM_022168.4:c.1306+37A>G MANE Select	NP_071451.2:n.1306+37A>G