Canonical Allele Identifier: CA254222
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7619
dbSNP Id: rs121918350

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658612G>A , CM000682.2:g.10658612G>A GRCh38
NC_000020.10:g.10639260G>A , CM000682.1:g.10639260G>A GRCh37
NC_000020.9:g.10587260G>A NCBI36
NG_007496.1:g.20435C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.550C>T MANE Select ENSP00000254958.4:p.Arg184Cys
ENST00000254958.9:c.550C>T ENSP00000254958.4:p.Arg184Cys
ENST00000423891.6:n.416C>T
NM_000214.2:c.550C>T NP_000205.1:p.Arg184Cys
NM_000214.3:c.550C>T MANE Select NP_000205.1:p.Arg184Cys