Canonical Allele Identifier: CA9764206

Gene: JAG1

Linked Data

• ClinVar Variation Id: 424319
• ClinVar RCV Id: RCV000730936 ; RCV000765484 ; RCV000687251
• dbSNP Id: rs143966918
• ExAC: 20:10620336 A / G
• gnomAD v2: 20-10620336-A-G
• gnomAD v3: 20-10639688-A-G
• gnomAD v4: 20-10639688-A-G
• MyVariant Identifiers: chr20:g.10620336A>G (hg19) ; chr20:g.10639688A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639688A>G , CM000682.2:g.10639688A>G	GRCh38
NC_000020.10:g.10620336A>G , CM000682.1:g.10620336A>G	GRCh37
NC_000020.9:g.10568336A>G	NCBI36
NG_007496.1:g.39359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3467T>C MANE Select	ENSP00000254958.4:p.Val1156Ala
ENST00000254958.9:c.3467T>C	ENSP00000254958.4:p.Val1156Ala
ENST00000423891.6:n.3333T>C
NM_000214.2:c.3467T>C	NP_000205.1:p.Val1156Ala
NM_000214.3:c.3467T>C MANE Select	NP_000205.1:p.Val1156Ala