Canonical Allele Identifier: CA9764957

Gene: JAG1

Linked Data

• ClinVar Variation Id: 255545
• ClinVar RCV Id: RCV000244469 ; RCV001237017 ; RCV002338795
• dbSNP Id: rs181970528
• ExAC: 20:10630934 C / T
• gnomAD v2: 20-10630934-C-T
• gnomAD v3: 20-10650286-C-T
• gnomAD v4: 20-10650286-C-T
• MyVariant Identifiers: chr20:g.10630934C>T (hg19) ; chr20:g.10650286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10650286C>T , CM000682.2:g.10650286C>T	GRCh38
NC_000020.10:g.10630934C>T , CM000682.1:g.10630934C>T	GRCh37
NC_000020.9:g.10578934C>T	NCBI36
NG_007496.1:g.28761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1195G>A MANE Select	ENSP00000254958.4:p.Val399Met
ENST00000617965.2:n.1784G>A
ENST00000254958.9:c.1195G>A	ENSP00000254958.4:p.Val399Met
ENST00000423891.6:n.1061G>A
NM_000214.2:c.1195G>A	NP_000205.1:p.Val399Met
NM_000214.3:c.1195G>A MANE Select	NP_000205.1:p.Val399Met