Canonical Allele Identifier: CA9764576

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337752
• ClinVar RCV Id: RCV000262497 ; RCV000595286 ; RCV002504137 ; RCV000471378 ; RCV004549770 ; RCV000620807 ; RCV001528251
• dbSNP Id: rs147809756
• ExAC: 20:10625624 C / T
• gnomAD v2: 20-10625624-C-T
• gnomAD v3: 20-10644976-C-T
• gnomAD v4: 20-10644976-C-T
• MyVariant Identifiers: chr20:g.10625624C>T (hg19) ; chr20:g.10644976C>T (hg38)
• PubMed: PMID:10220506 ; PMID:11058898 ; PMID:11139239 ; PMID:11157803 ; PMID:26760175

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644976C>T , CM000682.2:g.10644976C>T	GRCh38
NC_000020.10:g.10625624C>T , CM000682.1:g.10625624C>T	GRCh37
NC_000020.9:g.10573624C>T	NCBI36
NG_007496.1:g.34071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2231G>A MANE Select	ENSP00000254958.4:p.Arg744Gln
ENST00000617965.2:n.2820G>A
ENST00000254958.9:c.2231G>A	ENSP00000254958.4:p.Arg744Gln
ENST00000423891.6:n.2097G>A
ENST00000488480.2:n.628G>A
NM_000214.2:c.2231G>A	NP_000205.1:p.Arg744Gln
NM_000214.3:c.2231G>A MANE Select	NP_000205.1:p.Arg744Gln