Canonical Allele Identifier: CA9765145

Gene: JAG1

Linked Data

• ClinVar Variation Id: 390251
• ClinVar RCV Id: RCV000423465 ; RCV000528720 ; RCV000732793 ; RCV002374703 ; RCV004551495
• dbSNP Id: rs763154396
• ExAC: 20:10644651 C / T
• gnomAD v2: 20-10644651-C-T
• gnomAD v3: 20-10664003-C-T
• gnomAD v4: 20-10664003-C-T
• MyVariant Identifiers: chr20:g.10644651C>T (hg19) ; chr20:g.10664003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10664003C>T , CM000682.2:g.10664003C>T	GRCh38
NC_000020.10:g.10644651C>T , CM000682.1:g.10644651C>T	GRCh37
NC_000020.9:g.10592651C>T	NCBI36
NG_007496.1:g.15044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.399G>A MANE Select	ENSP00000254958.4:p.Thr133=
ENST00000254958.9:c.399G>A	ENSP00000254958.4:p.Thr133=
NM_000214.2:c.399G>A	NP_000205.1:p.Thr133=
NM_000214.3:c.399G>A MANE Select	NP_000205.1:p.Thr133=