Canonical Allele Identifier: CA324540

Gene: JAG1

Linked Data

• ClinVar Variation Id: 213529
• ClinVar RCV Id: RCV000199991 ; RCV000845195 ; RCV001853157 ; RCV004553065
• dbSNP Id: rs863223648
• gnomAD v4: 20-10663962-C-T
• COSMIC: COSM1483426 ; COSM1483427
• MyVariant Identifiers: chr20:g.10644610C>T (hg19) ; chr20:g.10663962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10663962C>T , CM000682.2:g.10663962C>T	GRCh38
NC_000020.10:g.10644610C>T , CM000682.1:g.10644610C>T	GRCh37
NC_000020.9:g.10592610C>T	NCBI36
NG_007496.1:g.15085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.439+1G>A MANE Select	ENSP00000254958.4:n.439+1G>A
ENST00000254958.9:c.439+1G>A	ENSP00000254958.4:n.439+1G>A
NM_000214.2:c.439+1G>A	NP_000205.1:n.439+1G>A
NM_000214.3:c.439+1G>A MANE Select	NP_000205.1:n.439+1G>A