Canonical Allele Identifier: CA9764915

Gene: JAG1

Linked Data

• ClinVar Variation Id: 500797
• ClinVar RCV Id: RCV000593319 ; RCV001437665 ; RCV002384301
• dbSNP Id: rs759545669
• ExAC: 20:10630183 C / T
• gnomAD v2: 20-10630183-C-T
• gnomAD v3: 20-10649535-C-T
• gnomAD v4: 20-10649535-C-T
• COSMIC: COSM3544088 ; COSM3544089
• MyVariant Identifiers: chr20:g.10630183C>T (hg19) ; chr20:g.10649535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10649535C>T , CM000682.2:g.10649535C>T	GRCh38
NC_000020.10:g.10630183C>T , CM000682.1:g.10630183C>T	GRCh37
NC_000020.9:g.10578183C>T	NCBI36
NG_007496.1:g.29512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1335G>A MANE Select	ENSP00000254958.4:p.Gln445=
ENST00000617965.2:n.1924G>A
ENST00000254958.9:c.1335G>A	ENSP00000254958.4:p.Gln445=
ENST00000423891.6:n.1201G>A
ENST00000620743.1:n.54G>A
ENST00000622545.1:c.112G>A
NM_000214.2:c.1335G>A	NP_000205.1:p.Gln445=
NM_000214.3:c.1335G>A MANE Select	NP_000205.1:p.Gln445=