Canonical Allele Identifier: CA254223
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7620
dbSNP Id: rs121918351

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658611C>T , CM000682.2:g.10658611C>T GRCh38
NC_000020.10:g.10639259C>T , CM000682.1:g.10639259C>T GRCh37
NC_000020.9:g.10587259C>T NCBI36
NG_007496.1:g.20436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.551G>A MANE Select ENSP00000254958.4:p.Arg184His
ENST00000254958.9:c.551G>A ENSP00000254958.4:p.Arg184His
ENST00000423891.6:n.417G>A
NM_000214.2:c.551G>A NP_000205.1:p.Arg184His
NM_000214.3:c.551G>A MANE Select NP_000205.1:p.Arg184His