Canonical Allele Identifier: CA408238378
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650254G>T , CM000682.2:g.10650254G>T GRCh38
NC_000020.10:g.10630902G>T , CM000682.1:g.10630902G>T GRCh37
NC_000020.9:g.10578902G>T NCBI36
NG_007496.1:g.28793C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1227C>A MANE Select ENSP00000254958.4:p.Cys409Ter
ENST00000617965.2:n.1816C>A
ENST00000254958.9:c.1227C>A ENSP00000254958.4:p.Cys409Ter
ENST00000423891.6:n.1093C>A
ENST00000622545.1:c.4C>A
NM_000214.2:c.1227C>A NP_000205.1:p.Cys409Ter
NM_000214.3:c.1227C>A MANE Select NP_000205.1:p.Cys409Ter