Canonical Allele Identifier: CA9765112

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337758
• ClinVar RCV Id: RCV000271780 ; RCV001078642 ; RCV000728706 ; RCV000827896 ; RCV002488725 ; RCV004549772 ; RCV002348090
• dbSNP Id: rs199674138
• ExAC: 20:10639284 C / T
• gnomAD v2: 20-10639284-C-T
• gnomAD v3: 20-10658636-C-T
• gnomAD v4: 20-10658636-C-T
• COSMIC: COSM1581092 ; COSM1581093
• MyVariant Identifiers: chr20:g.10639284C>T (hg19) ; chr20:g.10658636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658636C>T , CM000682.2:g.10658636C>T	GRCh38
NC_000020.10:g.10639284C>T , CM000682.1:g.10639284C>T	GRCh37
NC_000020.9:g.10587284C>T	NCBI36
NG_007496.1:g.20411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.526G>A MANE Select	ENSP00000254958.4:p.Val176Ile
ENST00000254958.9:c.526G>A	ENSP00000254958.4:p.Val176Ile
ENST00000423891.6:n.392G>A
NM_000214.2:c.526G>A	NP_000205.1:p.Val176Ile
NM_000214.3:c.526G>A MANE Select	NP_000205.1:p.Val176Ile