Canonical Allele Identifier: CA10577625
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234317
ClinVar RCV Id: RCV000218438 RCV002365165
dbSNP Id: rs876660977
gnomAD v4: 20-10673469-A-G
MyVariant Identifiers: chr20:g.10654117A>G (hg19) chr20:g.10673469A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673469A>G , CM000682.2:g.10673469A>G GRCh38
NC_000020.10:g.10654117A>G , CM000682.1:g.10654117A>G GRCh37
NC_000020.9:g.10602117A>G NCBI36
NG_007496.1:g.5578T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.62T>C MANE Select ENSP00000254958.4:p.Leu21Pro
ENST00000254958.9:c.62T>C ENSP00000254958.4:p.Leu21Pro
NM_000214.2:c.62T>C NP_000205.1:p.Leu21Pro
NM_000214.3:c.62T>C MANE Select NP_000205.1:p.Leu21Pro
Search 100 bp 5'
Search 100 bp 3'