Canonical Allele Identifier: CA9764559

Gene: JAG1

Linked Data

• ClinVar Variation Id: 502756
• ClinVar RCV Id: RCV000591788 ; RCV002448839 ; RCV002532683
• dbSNP Id: rs754301929
• ExAC: 20:10625550 C / T
• gnomAD v2: 20-10625550-C-T
• gnomAD v3: 20-10644902-C-T
• gnomAD v4: 20-10644902-C-T
• COSMIC: COSM1255132 ; COSM1255133
• MyVariant Identifiers: chr20:g.10625550C>T (hg19) ; chr20:g.10644902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644902C>T , CM000682.2:g.10644902C>T	GRCh38
NC_000020.10:g.10625550C>T , CM000682.1:g.10625550C>T	GRCh37
NC_000020.9:g.10573550C>T	NCBI36
NG_007496.1:g.34145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2305G>A MANE Select	ENSP00000254958.4:p.Val769Ile
ENST00000617965.2:n.2894G>A
ENST00000254958.9:c.2305G>A	ENSP00000254958.4:p.Val769Ile
ENST00000423891.6:n.2171G>A
ENST00000488480.2:n.702G>A
NM_000214.2:c.2305G>A	NP_000205.1:p.Val769Ile
NM_000214.3:c.2305G>A MANE Select	NP_000205.1:p.Val769Ile