Canonical Allele Identifier: CA9764386

Gene: JAG1

Linked Data

• ClinVar Variation Id: 468657
• ClinVar RCV Id: RCV000533650 ; RCV002491063 ; RCV004024061
• dbSNP Id: rs760332763
• ExAC: 20:10622197 G / A
• gnomAD v2: 20-10622197-G-A
• gnomAD v3: 20-10641549-G-A
• gnomAD v4: 20-10641549-G-A
• MyVariant Identifiers: chr20:g.10622197G>A (hg19) ; chr20:g.10641549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10641549G>A , CM000682.2:g.10641549G>A	GRCh38
NC_000020.10:g.10622197G>A , CM000682.1:g.10622197G>A	GRCh37
NC_000020.9:g.10570197G>A	NCBI36
NG_007496.1:g.37498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2827C>T MANE Select	ENSP00000254958.4:p.Pro943Ser
ENST00000254958.9:c.2827C>T	ENSP00000254958.4:p.Pro943Ser
ENST00000423891.6:n.2693C>T
NM_000214.2:c.2827C>T	NP_000205.1:p.Pro943Ser
NM_000214.3:c.2827C>T MANE Select	NP_000205.1:p.Pro943Ser