Canonical Allele Identifier: CA2349882321
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644645A= , CM000682.2:g.10644645A= GRCh38
NC_000020.10:g.10625293A= , CM000682.1:g.10625293A= GRCh37
NC_000020.9:g.10573293A= NCBI36
NG_007496.1:g.34402T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+218T= MANE Select ENSP00000254958.4:n.2344+218T=
ENST00000617965.2:n.2933+218T=
ENST00000254958.9:c.2344+218T= ENSP00000254958.4:n.2344+218T=
ENST00000423891.6:n.2210+218T=
ENST00000488480.2:n.959T=
NM_000214.2:c.2344+218T= NP_000205.1:n.2344+218T=
NM_000214.3:c.2344+218T= MANE Select NP_000205.1:n.2344+218T=