Canonical Allele Identifier: CA9764342

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337748
• ClinVar RCV Id: RCV000336734 ; RCV000591911 ; RCV001488793
• dbSNP Id: rs201573066
• ExAC: 20:10621899 C / T
• gnomAD v2: 20-10621899-C-T
• gnomAD v3: 20-10641251-C-T
• gnomAD v4: 20-10641251-C-T
• MyVariant Identifiers: chr20:g.10621899C>T (hg19) ; chr20:g.10641251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10641251C>T , CM000682.2:g.10641251C>T	GRCh38
NC_000020.10:g.10621899C>T , CM000682.1:g.10621899C>T	GRCh37
NC_000020.9:g.10569899C>T	NCBI36
NG_007496.1:g.37796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2917-7G>A MANE Select	ENSP00000254958.4:n.2917-7G>A
ENST00000254958.9:c.2917-7G>A	ENSP00000254958.4:n.2917-7G>A
ENST00000423891.6:n.2783-7G>A
ENST00000617357.1:n.26G>A
NM_000214.2:c.2917-7G>A	NP_000205.1:n.2917-7G>A
NM_000214.3:c.2917-7G>A MANE Select	NP_000205.1:n.2917-7G>A