Canonical Allele Identifier: CA9764191

Gene: JAG1

Linked Data

• ClinVar Variation Id: 1494264
• ClinVar RCV Id: RCV001989225 ; RCV002479705 ; RCV003170463 ; RCV004553615
• dbSNP Id: rs758788135
• ExAC: 20:10620261 C / T
• gnomAD v2: 20-10620261-C-T
• gnomAD v3: 20-10639613-C-T
• gnomAD v4: 20-10639613-C-T
• MyVariant Identifiers: chr20:g.10620261C>T (hg19) ; chr20:g.10639613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639613C>T , CM000682.2:g.10639613C>T	GRCh38
NC_000020.10:g.10620261C>T , CM000682.1:g.10620261C>T	GRCh37
NC_000020.9:g.10568261C>T	NCBI36
NG_007496.1:g.39434G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3542G>A MANE Select	ENSP00000254958.4:p.Arg1181Lys
ENST00000254958.9:c.3542G>A	ENSP00000254958.4:p.Arg1181Lys
ENST00000423891.6:n.3408G>A
NM_000214.2:c.3542G>A	NP_000205.1:p.Arg1181Lys
NM_000214.3:c.3542G>A MANE Select	NP_000205.1:p.Arg1181Lys