Canonical Allele Identifier: CA9764340

Gene: JAG1

Linked Data

• ClinVar Variation Id: 500949
• ClinVar RCV Id: RCV000591569 ; RCV001482684 ; RCV002438541
• dbSNP Id: rs751809412
• ExAC: 20:10621882 G / A
• gnomAD v2: 20-10621882-G-A
• gnomAD v3: 20-10641234-G-A
• gnomAD v4: 20-10641234-G-A
• MyVariant Identifiers: chr20:g.10621882G>A (hg19) ; chr20:g.10641234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10641234G>A , CM000682.2:g.10641234G>A	GRCh38
NC_000020.10:g.10621882G>A , CM000682.1:g.10621882G>A	GRCh37
NC_000020.9:g.10569882G>A	NCBI36
NG_007496.1:g.37813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2927C>T MANE Select	ENSP00000254958.4:p.Thr976Met
ENST00000254958.9:c.2927C>T	ENSP00000254958.4:p.Thr976Met
ENST00000423891.6:n.2793C>T
ENST00000617357.1:n.43C>T
NM_000214.2:c.2927C>T	NP_000205.1:p.Thr976Met
NM_000214.3:c.2927C>T MANE Select	NP_000205.1:p.Thr976Met