Canonical Allele Identifier: CA9764736

Gene: JAG1

Linked Data

• ClinVar Variation Id: 518619
• ClinVar RCV Id: RCV000621611 ; RCV000734060 ; RCV003509587
• dbSNP Id: rs140624746
• ExAC: 20:10627606 C / T
• gnomAD v2: 20-10627606-C-T
• gnomAD v3: 20-10646958-C-T
• gnomAD v4: 20-10646958-C-T
• MyVariant Identifiers: chr20:g.10627606C>T (hg19) ; chr20:g.10646958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10646958C>T , CM000682.2:g.10646958C>T	GRCh38
NC_000020.10:g.10627606C>T , CM000682.1:g.10627606C>T	GRCh37
NC_000020.9:g.10575606C>T	NCBI36
NG_007496.1:g.32089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1866G>A MANE Select	ENSP00000254958.4:p.Thr622=
ENST00000617965.2:n.2455G>A
ENST00000254958.9:c.1866G>A	ENSP00000254958.4:p.Thr622=
ENST00000423891.6:n.1732G>A
ENST00000612857.1:n.355G>A
ENST00000613518.1:c.215G>A
NM_000214.2:c.1866G>A	NP_000205.1:p.Thr622=
NM_000214.3:c.1866G>A MANE Select	NP_000205.1:p.Thr622=