Canonical Allele Identifier: CA311367451

Gene: JAG1

Linked Data

• ClinVar Variation Id: 501666
• ClinVar RCV Id: RCV000596683 ; RCV001337732 ; RCV002325132 ; RCV004553338
• dbSNP Id: rs908755268
• gnomAD v2: 20-10620456-C-T
• gnomAD v3: 20-10639808-C-T
• gnomAD v4: 20-10639808-C-T
• MyVariant Identifiers: chr20:g.10620456C>T (hg19) ; chr20:g.10639808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639808C>T , CM000682.2:g.10639808C>T	GRCh38
NC_000020.10:g.10620456C>T , CM000682.1:g.10620456C>T	GRCh37
NC_000020.9:g.10568456C>T	NCBI36
NG_007496.1:g.39239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3347G>A MANE Select	ENSP00000254958.4:p.Arg1116Gln
ENST00000254958.9:c.3347G>A	ENSP00000254958.4:p.Arg1116Gln
ENST00000423891.6:n.3213G>A
NM_000214.2:c.3347G>A	NP_000205.1:p.Arg1116Gln
NM_000214.3:c.3347G>A MANE Select	NP_000205.1:p.Arg1116Gln