Canonical Allele Identifier: CA9764219

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337746
• ClinVar RCV Id: RCV000389258 ; RCV000729052 ; RCV002323546 ; RCV001214423
• dbSNP Id: rs148373907
• ExAC: 20:10620460 C / T
• gnomAD v2: 20-10620460-C-T
• gnomAD v3: 20-10639812-C-T
• gnomAD v4: 20-10639812-C-T
• MyVariant Identifiers: chr20:g.10620460C>T (hg19) ; chr20:g.10639812C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639812C>T , CM000682.2:g.10639812C>T	GRCh38
NC_000020.10:g.10620460C>T , CM000682.1:g.10620460C>T	GRCh37
NC_000020.9:g.10568460C>T	NCBI36
NG_007496.1:g.39235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3343G>A MANE Select	ENSP00000254958.4:p.Val1115Met
ENST00000254958.9:c.3343G>A	ENSP00000254958.4:p.Val1115Met
ENST00000423891.6:n.3209G>A
NM_000214.2:c.3343G>A	NP_000205.1:p.Val1115Met
NM_000214.3:c.3343G>A MANE Select	NP_000205.1:p.Val1115Met