Canonical Allele Identifier: CA9764197

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337745
• ClinVar RCV Id: RCV000310081 ; RCV000592285 ; RCV001506176
• dbSNP Id: rs775363555
• ExAC: 20:10620282 G / A
• gnomAD v2: 20-10620282-G-A
• gnomAD v3: 20-10639634-G-A
• gnomAD v4: 20-10639634-G-A
• COSMIC: COSM1410330 ; COSM1410331
• MyVariant Identifiers: chr20:g.10620282G>A (hg19) ; chr20:g.10639634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639634G>A , CM000682.2:g.10639634G>A	GRCh38
NC_000020.10:g.10620282G>A , CM000682.1:g.10620282G>A	GRCh37
NC_000020.9:g.10568282G>A	NCBI36
NG_007496.1:g.39413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3521C>T MANE Select	ENSP00000254958.4:p.Pro1174Leu
ENST00000254958.9:c.3521C>T	ENSP00000254958.4:p.Pro1174Leu
ENST00000423891.6:n.3387C>T
NM_000214.2:c.3521C>T	NP_000205.1:p.Pro1174Leu
NM_000214.3:c.3521C>T MANE Select	NP_000205.1:p.Pro1174Leu