Canonical Allele Identifier: CA9764165

Gene: JAG1

Linked Data

• ClinVar Variation Id: 500525
• ClinVar RCV Id: RCV000596800 ; RCV001854061 ; RCV002456305 ; RCV002491208 ; RCV004553327
• dbSNP Id: rs150295026
• ExAC: 20:10620151 C / T
• gnomAD v2: 20-10620151-C-T
• gnomAD v3: 20-10639503-C-T
• gnomAD v4: 20-10639503-C-T
• MyVariant Identifiers: chr20:g.10620151C>T (hg19) ; chr20:g.10639503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639503C>T , CM000682.2:g.10639503C>T	GRCh38
NC_000020.10:g.10620151C>T , CM000682.1:g.10620151C>T	GRCh37
NC_000020.9:g.10568151C>T	NCBI36
NG_007496.1:g.39544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3652G>A MANE Select	ENSP00000254958.4:p.Val1218Ile
ENST00000254958.9:c.3652G>A	ENSP00000254958.4:p.Val1218Ile
ENST00000423891.6:n.3518G>A
NM_000214.2:c.3652G>A	NP_000205.1:p.Val1218Ile
NM_000214.3:c.3652G>A MANE Select	NP_000205.1:p.Val1218Ile