Canonical Allele Identifier: CA59665470

Gene: IFIH1

Linked Data

• dbSNP Id: rs766343211
• gnomAD v3: 2-162282228-AAGT-A
• gnomAD v4: 2-162282228-AAGT-A
• MyVariant Identifiers: chr2:g.163138739_163138741del (hg19) ; chr2:g.162282229_162282231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282231_162282233del , CM000664.2:g.162282231_162282233del	GRCh38
NC_000002.11:g.163138741_163138743del , CM000664.1:g.163138741_163138743del	GRCh37
NC_000002.10:g.162846987_162846989del	NCBI36
NG_011495.1:g.41299_41301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*903+135_*903+137del	ENSP00000513228.1:n.*903+135_*903+137del
ENST00000648433.1:c.1306+135_1306+137del	ENSP00000496816.1:n.1306+135_1306+137del
ENST00000649554.1:n.916+135_916+137del
ENST00000649979.2:c.1306+135_1306+137del MANE Select	ENSP00000497271.1:n.1306+135_1306+137del
ENST00000679938.1:c.994+135_994+137del	ENSP00000505518.1:n.994+135_994+137del
ENST00000263642.2:c.1306+135_1306+137del	ENSP00000263642.2:n.1306+135_1306+137del
NM_022168.3:c.1306+135_1306+137del	NP_071451.2:n.1306+135_1306+137del
XM_011511628.1:c.589+135_589+137del	XP_011509930.1:n.589+135_589+137del
XM_011511629.1:c.1306+135_1306+137del	XP_011509931.1:n.1306+135_1306+137del
NM_022168.4:c.1306+135_1306+137del MANE Select	NP_071451.2:n.1306+135_1306+137del