Canonical Allele Identifier: CA9764662

Gene: JAG1

Linked Data

• ClinVar Variation Id: 499978
• ClinVar RCV Id: RCV000596723 ; RCV000618168 ; RCV001089168
• dbSNP Id: rs151291264
• ExAC: 20:10626074 C / T
• gnomAD v2: 20-10626074-C-T
• gnomAD v3: 20-10645426-C-T
• gnomAD v4: 20-10645426-C-T
• MyVariant Identifiers: chr20:g.10626074C>T (hg19) ; chr20:g.10645426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10645426C>T , CM000682.2:g.10645426C>T	GRCh38
NC_000020.10:g.10626074C>T , CM000682.1:g.10626074C>T	GRCh37
NC_000020.9:g.10574074C>T	NCBI36
NG_007496.1:g.33621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2043G>A MANE Select	ENSP00000254958.4:p.Thr681=
ENST00000617965.2:n.2632G>A
ENST00000254958.9:c.2043G>A	ENSP00000254958.4:p.Thr681=
ENST00000423891.6:n.1909G>A
ENST00000488480.2:n.440G>A
ENST00000612857.1:n.532G>A
NM_000214.2:c.2043G>A	NP_000205.1:p.Thr681=
NM_000214.3:c.2043G>A MANE Select	NP_000205.1:p.Thr681=