Canonical Allele Identifier: CA9765043

Gene: JAG1

Linked Data

• ClinVar Variation Id: 264345
• ClinVar RCV Id: RCV000244534 ; RCV000597837 ; RCV001081833 ; RCV004547640
• dbSNP Id: rs148990028
• ExAC: 20:10633188 C / T
• gnomAD v2: 20-10633188-C-T
• gnomAD v3: 20-10652540-C-T
• gnomAD v4: 20-10652540-C-T
• COSMIC: COSM1410346 ; COSM1410347
• MyVariant Identifiers: chr20:g.10633188C>T (hg19) ; chr20:g.10652540C>T (hg38)
• PubMed: PMID:21893051

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10652540C>T , CM000682.2:g.10652540C>T	GRCh38
NC_000020.10:g.10633188C>T , CM000682.1:g.10633188C>T	GRCh37
NC_000020.9:g.10581188C>T	NCBI36
NG_007496.1:g.26507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.814G>A MANE Select	ENSP00000254958.4:p.Val272Ile
ENST00000617965.2:n.183G>A
ENST00000254958.9:c.814G>A	ENSP00000254958.4:p.Val272Ile
ENST00000423891.6:n.680G>A
ENST00000617965.1:n.183G>A
NM_000214.2:c.814G>A	NP_000205.1:p.Val272Ile
NM_000214.3:c.814G>A MANE Select	NP_000205.1:p.Val272Ile