Canonical Allele Identifier: CA1934568

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 1231586
• ClinVar RCV Id: RCV001610242 ; RCV003399427
• dbSNP Id: rs58630208
• ExAC: 2:163138851 T / TA
• gnomAD v2: 2-163138851-T-TA
• gnomAD v3: 2-162282341-T-TA
• gnomAD v4: 2-162282341-T-TA
• MyVariant Identifiers: chr2:g.163138852_163138853insA (hg19) ; chr2:g.163138851_163138852insA (hg19) ; chr2:g.162282342_162282343insA (hg38) ; chr2:g.162282341_162282342insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282348dup , CM000664.2:g.162282348dup	GRCh38
NC_000002.11:g.163138858dup , CM000664.1:g.163138858dup	GRCh37
NC_000002.10:g.162847104dup	NCBI36
NG_011495.1:g.41188dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*903+24dup	ENSP00000513228.1:n.*903+24dup
ENST00000648433.1:c.1306+24dup	ENSP00000496816.1:n.1306+24dup
ENST00000649554.1:n.916+24dup
ENST00000649979.2:c.1306+24dup MANE Select	ENSP00000497271.1:n.1306+24dup
ENST00000679938.1:c.994+24dup	ENSP00000505518.1:n.994+24dup
ENST00000263642.2:c.1306+24dup	ENSP00000263642.2:n.1306+24dup
NM_022168.3:c.1306+24dup	NP_071451.2:n.1306+24dup
XM_011511628.1:c.589+24dup	XP_011509930.1:n.589+24dup
XM_011511629.1:c.1306+24dup	XP_011509931.1:n.1306+24dup
NM_022168.4:c.1306+24dup MANE Select	NP_071451.2:n.1306+24dup