Canonical Allele Identifier: CA9765066
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2859458
ClinVar RCV Id: RCV003621429
dbSNP Id: rs751789189

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656380A>G , CM000682.2:g.10656380A>G GRCh38
NC_000020.10:g.10637028A>G , CM000682.1:g.10637028A>G GRCh37
NC_000020.9:g.10585028A>G NCBI36
NG_007496.1:g.22667T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.755+18T>C MANE Select ENSP00000254958.4:n.755+18T>C
ENST00000254958.9:c.755+18T>C ENSP00000254958.4:n.755+18T>C
ENST00000423891.6:n.621+18T>C
NM_000214.2:c.755+18T>C NP_000205.1:n.755+18T>C
NM_000214.3:c.755+18T>C MANE Select NP_000205.1:n.755+18T>C