Canonical Allele Identifier: CA9764183

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337743
• ClinVar RCV Id: RCV000299839 ; RCV001522902 ; RCV000867990 ; RCV002450912 ; RCV004549768
• dbSNP Id: rs201572666
• ExAC: 20:10620233 C / T
• gnomAD v2: 20-10620233-C-T
• gnomAD v3: 20-10639585-C-T
• gnomAD v4: 20-10639585-C-T
• COSMIC: COSM1024400 ; COSM1024401
• MyVariant Identifiers: chr20:g.10620233C>T (hg19) ; chr20:g.10620233_10620238delinsTGGCGT (hg19) ; chr20:g.10639585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639585C>T , CM000682.2:g.10639585C>T	GRCh38
NC_000020.10:g.10620233C>T , CM000682.1:g.10620233C>T	GRCh37
NC_000020.9:g.10568233C>T	NCBI36
NG_007496.1:g.39462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3570G>A MANE Select	ENSP00000254958.4:p.Pro1190=
ENST00000254958.9:c.3570G>A	ENSP00000254958.4:p.Pro1190=
ENST00000423891.6:n.3436G>A
NM_000214.2:c.3570G>A	NP_000205.1:p.Pro1190=
NM_000214.3:c.3570G>A MANE Select	NP_000205.1:p.Pro1190=