Canonical Allele Identifier: CA9764807

Gene: JAG1

Linked Data

• ClinVar Variation Id: 255549
• ClinVar RCV Id: RCV000248082 ; RCV000301221 ; RCV000861803 ; RCV002487117 ; RCV001701806 ; RCV002401953
• dbSNP Id: rs1801139
• ExAC: 20:10628750 G / A
• gnomAD v2: 20-10628750-G-A
• gnomAD v3: 20-10648102-G-A
• gnomAD v4: 20-10648102-G-A
• MyVariant Identifiers: chr20:g.10628750G>A (hg19) ; chr20:g.10648102G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10648102G>A , CM000682.2:g.10648102G>A	GRCh38
NC_000020.10:g.10628750G>A , CM000682.1:g.10628750G>A	GRCh37
NC_000020.9:g.10576750G>A	NCBI36
NG_007496.1:g.30945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1578C>T MANE Select	ENSP00000254958.4:p.Ile526=
ENST00000617965.2:n.2167C>T
ENST00000254958.9:c.1578C>T	ENSP00000254958.4:p.Ile526=
ENST00000423891.6:n.1444C>T
ENST00000620743.1:n.635C>T
ENST00000622545.1:c.309C>T
NM_000214.2:c.1578C>T	NP_000205.1:p.Ile526=
NM_000214.3:c.1578C>T MANE Select	NP_000205.1:p.Ile526=