Canonical Allele Identifier: CA2349895725
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067515486

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673720C>A , CM000682.2:g.10673720C>A GRCh38
NC_000020.10:g.10654368C>A , CM000682.1:g.10654368C>A GRCh37
NC_000020.9:g.10602368C>A NCBI36
NG_007496.1:g.5327G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-190G>T MANE Select ENSP00000254958.4:n.-190G>T
ENST00000254958.9:c.-190G>T ENSP00000254958.4:n.-190G>T
NM_000214.2:c.-190G>T NP_000205.1:n.-190G>T
NM_000214.3:c.-190G>T MANE Select NP_000205.1:n.-190G>T