Canonical Allele Identifier: CA9764166

Gene: JAG1

Linked Data

• ClinVar Variation Id: 289034
• ClinVar RCV Id: RCV000343144 ; RCV001078752 ; RCV001141013 ; RCV003165767
• dbSNP Id: rs542831744
• ExAC: 20:10620152 G / A
• gnomAD v2: 20-10620152-G-A
• gnomAD v3: 20-10639504-G-A
• gnomAD v4: 20-10639504-G-A
• COSMIC: COSM1751303 ; COSM1751304
• MyVariant Identifiers: chr20:g.10620152G>A (hg19) ; chr20:g.10639504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639504G>A , CM000682.2:g.10639504G>A	GRCh38
NC_000020.10:g.10620152G>A , CM000682.1:g.10620152G>A	GRCh37
NC_000020.9:g.10568152G>A	NCBI36
NG_007496.1:g.39543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3651C>T MANE Select	ENSP00000254958.4:p.Ile1217=
ENST00000254958.9:c.3651C>T	ENSP00000254958.4:p.Ile1217=
ENST00000423891.6:n.3517C>T
NM_000214.2:c.3651C>T	NP_000205.1:p.Ile1217=
NM_000214.3:c.3651C>T MANE Select	NP_000205.1:p.Ile1217=