Canonical Allele Identifier: CA9765104
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1157437
dbSNP Id: rs748982554

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658481G>A , CM000682.2:g.10658481G>A GRCh38
NC_000020.10:g.10639129G>A , CM000682.1:g.10639129G>A GRCh37
NC_000020.9:g.10587129G>A NCBI36
NG_007496.1:g.20566C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.681C>T MANE Select ENSP00000254958.4:p.Pro227=
ENST00000254958.9:c.681C>T ENSP00000254958.4:p.Pro227=
ENST00000423891.6:n.547C>T
NM_000214.2:c.681C>T NP_000205.1:p.Pro227=
NM_000214.3:c.681C>T MANE Select NP_000205.1:p.Pro227=