Canonical Allele Identifier: CA9764562
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 337751
dbSNP Id: rs140330283

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644907G>A , CM000682.2:g.10644907G>A GRCh38
NC_000020.10:g.10625555G>A , CM000682.1:g.10625555G>A GRCh37
NC_000020.9:g.10573555G>A NCBI36
NG_007496.1:g.34140C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2300C>T MANE Select ENSP00000254958.4:p.Thr767Met
ENST00000617965.2:n.2889C>T
ENST00000254958.9:c.2300C>T ENSP00000254958.4:p.Thr767Met
ENST00000423891.6:n.2166C>T
ENST00000488480.2:n.697C>T
NM_000214.2:c.2300C>T NP_000205.1:p.Thr767Met
NM_000214.3:c.2300C>T MANE Select NP_000205.1:p.Thr767Met