Canonical Allele Identifier: CA10577624

Gene: JAG1

Linked Data

• ClinVar Variation Id: 234320
• ClinVar RCV Id: RCV000218714 ; RCV000820770 ; RCV004547565
• dbSNP Id: rs876660980
• gnomAD v4: 20-10656450-G-A
• COSMIC: COSM87986
• MyVariant Identifiers: chr20:g.10637098G>A (hg19) ; chr20:g.10656450G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10656450G>A , CM000682.2:g.10656450G>A	GRCh38
NC_000020.10:g.10637098G>A , CM000682.1:g.10637098G>A	GRCh37
NC_000020.9:g.10585098G>A	NCBI36
NG_007496.1:g.22597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.703C>T MANE Select	ENSP00000254958.4:p.Arg235Ter
ENST00000254958.9:c.703C>T	ENSP00000254958.4:p.Arg235Ter
ENST00000423891.6:n.569C>T
NM_000214.2:c.703C>T	NP_000205.1:p.Arg235Ter
NM_000214.3:c.703C>T MANE Select	NP_000205.1:p.Arg235Ter