Canonical Allele Identifier: CA408240533
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 967648
ClinVar RCV Id: RCV001242612
dbSNP Id: rs2067394475

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658675G>A , CM000682.2:g.10658675G>A GRCh38
NC_000020.10:g.10639323G>A , CM000682.1:g.10639323G>A GRCh37
NC_000020.9:g.10587323G>A NCBI36
NG_007496.1:g.20372C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.487C>T MANE Select ENSP00000254958.4:p.Pro163Ser
ENST00000254958.9:c.487C>T ENSP00000254958.4:p.Pro163Ser
ENST00000423891.6:n.353C>T
NM_000214.2:c.487C>T NP_000205.1:p.Pro163Ser
NM_000214.3:c.487C>T MANE Select NP_000205.1:p.Pro163Ser