Canonical Allele Identifier: CA311351541
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3013288
ClinVar RCV Id: RCV003870383
dbSNP Id: rs900132428
gnomAD v2: 20-10639303-C-T
gnomAD v3: 20-10658655-C-T
gnomAD v4: 20-10658655-C-T
MyVariant Identifiers: chr20:g.10639303C>T (hg19) chr20:g.10658655C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658655C>T , CM000682.2:g.10658655C>T GRCh38
NC_000020.10:g.10639303C>T , CM000682.1:g.10639303C>T GRCh37
NC_000020.9:g.10587303C>T NCBI36
NG_007496.1:g.20392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.507G>A MANE Select ENSP00000254958.4:p.Thr169=
ENST00000254958.9:c.507G>A ENSP00000254958.4:p.Thr169=
ENST00000423891.6:n.373G>A
NM_000214.2:c.507G>A NP_000205.1:p.Thr169=
NM_000214.3:c.507G>A MANE Select NP_000205.1:p.Thr169=
Search 100 bp 5'
Search 100 bp 3'