Canonical Allele Identifier: CA9765108

Gene: JAG1

Linked Data

• ClinVar Variation Id: 1088252
• ClinVar RCV Id: RCV001406662 ; RCV002350777
• dbSNP Id: rs776616206
• ExAC: 20:10639252 G / A
• gnomAD v2: 20-10639252-G-A
• COSMIC: COSM1024475 ; COSM1024476
• MyVariant Identifiers: chr20:g.10639252G>A (hg19) ; chr20:g.10658604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658604G>A , CM000682.2:g.10658604G>A	GRCh38
NC_000020.10:g.10639252G>A , CM000682.1:g.10639252G>A	GRCh37
NC_000020.9:g.10587252G>A	NCBI36
NG_007496.1:g.20443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.558C>T MANE Select	ENSP00000254958.4:p.Thr186=
ENST00000254958.9:c.558C>T	ENSP00000254958.4:p.Thr186=
ENST00000423891.6:n.424C>T
NM_000214.2:c.558C>T	NP_000205.1:p.Thr186=
NM_000214.3:c.558C>T MANE Select	NP_000205.1:p.Thr186=