Canonical Allele Identifier: CA9764482

Gene: JAG1

Linked Data

• ClinVar Variation Id: 452945
• ClinVar RCV Id: RCV000522322 ; RCV002528288 ; RCV002431493
• dbSNP Id: rs141292792
• ExAC: 20:10623210 G / A
• gnomAD v2: 20-10623210-G-A
• gnomAD v3: 20-10642562-G-A
• gnomAD v4: 20-10642562-G-A
• MyVariant Identifiers: chr20:g.10623210G>A (hg19) ; chr20:g.10642562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10642562G>A , CM000682.2:g.10642562G>A	GRCh38
NC_000020.10:g.10623210G>A , CM000682.1:g.10623210G>A	GRCh37
NC_000020.9:g.10571210G>A	NCBI36
NG_007496.1:g.36485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2498C>T MANE Select	ENSP00000254958.4:p.Ala833Val
ENST00000617965.2:n.3087C>T
ENST00000254958.9:c.2498C>T	ENSP00000254958.4:p.Ala833Val
ENST00000423891.6:n.2364C>T
NM_000214.2:c.2498C>T	NP_000205.1:p.Ala833Val
NM_000214.3:c.2498C>T MANE Select	NP_000205.1:p.Ala833Val