Canonical Allele Identifier: CA9765119

Gene: JAG1

Linked Data

• ClinVar Variation Id: 594344
• ClinVar RCV Id: RCV000729607 ; RCV001337598
• dbSNP Id: rs779793192
• ExAC: 20:10639316 C / T
• gnomAD v2: 20-10639316-C-T
• gnomAD v3: 20-10658668-C-T
• gnomAD v4: 20-10658668-C-T
• MyVariant Identifiers: chr20:g.10639316C>T (hg19) ; chr20:g.10658668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658668C>T , CM000682.2:g.10658668C>T	GRCh38
NC_000020.10:g.10639316C>T , CM000682.1:g.10639316C>T	GRCh37
NC_000020.9:g.10587316C>T	NCBI36
NG_007496.1:g.20379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.494G>A MANE Select	ENSP00000254958.4:p.Arg165Gln
ENST00000254958.9:c.494G>A	ENSP00000254958.4:p.Arg165Gln
ENST00000423891.6:n.360G>A
NM_000214.2:c.494G>A	NP_000205.1:p.Arg165Gln
NM_000214.3:c.494G>A MANE Select	NP_000205.1:p.Arg165Gln