Canonical Allele Identifier: CA9765112
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 337758
dbSNP Id: rs199674138

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658636C>T , CM000682.2:g.10658636C>T GRCh38
NC_000020.10:g.10639284C>T , CM000682.1:g.10639284C>T GRCh37
NC_000020.9:g.10587284C>T NCBI36
NG_007496.1:g.20411G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.526G>A MANE Select ENSP00000254958.4:p.Val176Ile
ENST00000254958.9:c.526G>A ENSP00000254958.4:p.Val176Ile
ENST00000423891.6:n.392G>A
NM_000214.2:c.526G>A NP_000205.1:p.Val176Ile
NM_000214.3:c.526G>A MANE Select NP_000205.1:p.Val176Ile