Canonical Allele Identifier: CA9765209

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337761
• ClinVar RCV Id: RCV000303889 ; RCV000597398 ; RCV000618886 ; RCV000645022 ; RCV001672588
• dbSNP Id: rs183974372
• ExAC: 20:10653603 C / A
• gnomAD v2: 20-10653603-C-A
• gnomAD v3: 20-10672955-C-A
• gnomAD v4: 20-10672955-C-A
• MyVariant Identifiers: chr20:g.10653603C>A (hg19) ; chr20:g.10672955C>A (hg38)
• PubMed: PMID:12297837 ; PMID:20706826

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10672955C>A , CM000682.2:g.10672955C>A	GRCh38
NC_000020.10:g.10653603C>A , CM000682.1:g.10653603C>A	GRCh37
NC_000020.9:g.10601603C>A	NCBI36
NG_007496.1:g.6092G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.133G>T MANE Select	ENSP00000254958.4:p.Val45Leu
ENST00000254958.9:c.133G>T	ENSP00000254958.4:p.Val45Leu
NM_000214.2:c.133G>T	NP_000205.1:p.Val45Leu
NM_000214.3:c.133G>T MANE Select	NP_000205.1:p.Val45Leu