Canonical Allele Identifier: CA9765137

Gene: JAG1

Linked Data

• ClinVar Variation Id: 414163
• ClinVar RCV Id: RCV000465246 ; RCV000591818 ; RCV001709654 ; RCV004551548 ; RCV002496814
• dbSNP Id: rs201371037
• ExAC: 20:10644601 C / T
• gnomAD v2: 20-10644601-C-T
• gnomAD v3: 20-10663953-C-T
• gnomAD v4: 20-10663953-C-T
• MyVariant Identifiers: chr20:g.10644601C>T (hg19) ; chr20:g.10663953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10663953C>T , CM000682.2:g.10663953C>T	GRCh38
NC_000020.10:g.10644601C>T , CM000682.1:g.10644601C>T	GRCh37
NC_000020.9:g.10592601C>T	NCBI36
NG_007496.1:g.15094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.439+10G>A MANE Select	ENSP00000254958.4:n.439+10G>A
ENST00000254958.9:c.439+10G>A	ENSP00000254958.4:n.439+10G>A
NM_000214.2:c.439+10G>A	NP_000205.1:n.439+10G>A
XR_937258.1:n.4G>A
NM_000214.3:c.439+10G>A MANE Select	NP_000205.1:n.439+10G>A