Canonical Allele Identifier: CA9764848

Gene: JAG1

Linked Data

• ClinVar Variation Id: 498807
• ClinVar RCV Id: RCV000596400 ; RCV002065158 ; RCV004553316
• dbSNP Id: rs574349599
• ExAC: 20:10629351 C / T
• gnomAD v2: 20-10629351-C-T
• gnomAD v3: 20-10648703-C-T
• gnomAD v4: 20-10648703-C-T
• MyVariant Identifiers: chr20:g.10629351C>T (hg19) ; chr20:g.10648703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10648703C>T , CM000682.2:g.10648703C>T	GRCh38
NC_000020.10:g.10629351C>T , CM000682.1:g.10629351C>T	GRCh37
NC_000020.9:g.10577351C>T	NCBI36
NG_007496.1:g.30344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1415G>A MANE Select	ENSP00000254958.4:p.Arg472His
ENST00000617965.2:n.2004G>A
ENST00000254958.9:c.1415G>A	ENSP00000254958.4:p.Arg472His
ENST00000423891.6:n.1281G>A
ENST00000620743.1:n.472G>A
ENST00000622545.1:c.173-27G>A
NM_000214.2:c.1415G>A	NP_000205.1:p.Arg472His
NM_000214.3:c.1415G>A MANE Select	NP_000205.1:p.Arg472His