Canonical Allele Identifier: CA408245235

Gene: JAG1

Linked Data

• ClinVar Variation Id: 498315
• ClinVar RCV Id: RCV000591762 ; RCV001342639 ; RCV004024732
• dbSNP Id: rs1454234098
• gnomAD v2: 20-10622442-C-T
• gnomAD v3: 20-10641794-C-T
• gnomAD v4: 20-10641794-C-T
• COSMIC: COSM312100 ; COSM312101
• MyVariant Identifiers: chr20:g.10622442C>T (hg19) ; chr20:g.10641794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10641794C>T , CM000682.2:g.10641794C>T	GRCh38
NC_000020.10:g.10622442C>T , CM000682.1:g.10622442C>T	GRCh37
NC_000020.9:g.10570442C>T	NCBI36
NG_007496.1:g.37253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2671G>A MANE Select	ENSP00000254958.4:p.Ala891Thr
ENST00000617965.2:n.3260G>A
ENST00000254958.9:c.2671G>A	ENSP00000254958.4:p.Ala891Thr
ENST00000423891.6:n.2537G>A
NM_000214.2:c.2671G>A	NP_000205.1:p.Ala891Thr
NM_000214.3:c.2671G>A MANE Select	NP_000205.1:p.Ala891Thr