Canonical Allele Identifier: CA2349882327
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644654A= , CM000682.2:g.10644654A= GRCh38
NC_000020.10:g.10625302A= , CM000682.1:g.10625302A= GRCh37
NC_000020.9:g.10573302A= NCBI36
NG_007496.1:g.34393T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+209T= MANE Select ENSP00000254958.4:n.2344+209T=
ENST00000617965.2:n.2933+209T=
ENST00000254958.9:c.2344+209T= ENSP00000254958.4:n.2344+209T=
ENST00000423891.6:n.2210+209T=
ENST00000488480.2:n.950T=
NM_000214.2:c.2344+209T= NP_000205.1:n.2344+209T=
NM_000214.3:c.2344+209T= MANE Select NP_000205.1:n.2344+209T=