Canonical Allele Identifier: CA9764212

Gene: JAG1

Linked Data

• ClinVar Variation Id: 536530
• ClinVar RCV Id: RCV000645016 ; RCV000765485 ; RCV004547815
• dbSNP Id: rs769242977
• ExAC: 20:10620412 C / T
• gnomAD v2: 20-10620412-C-T
• gnomAD v3: 20-10639764-C-T
• gnomAD v4: 20-10639764-C-T
• COSMIC: COSM1410332 ; COSM1410333
• MyVariant Identifiers: chr20:g.10620412C>T (hg19) ; chr20:g.10639764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639764C>T , CM000682.2:g.10639764C>T	GRCh38
NC_000020.10:g.10620412C>T , CM000682.1:g.10620412C>T	GRCh37
NC_000020.9:g.10568412C>T	NCBI36
NG_007496.1:g.39283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3391G>A MANE Select	ENSP00000254958.4:p.Ala1131Thr
ENST00000254958.9:c.3391G>A	ENSP00000254958.4:p.Ala1131Thr
ENST00000423891.6:n.3257G>A
NM_000214.2:c.3391G>A	NP_000205.1:p.Ala1131Thr
NM_000214.3:c.3391G>A MANE Select	NP_000205.1:p.Ala1131Thr