Canonical Allele Identifier: CA234137
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167201
dbSNP Id: rs201234393

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10642501G>A , CM000682.2:g.10642501G>A GRCh38
NC_000020.10:g.10623149G>A , CM000682.1:g.10623149G>A GRCh37
NC_000020.9:g.10571149G>A NCBI36
NG_007496.1:g.36546C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2559C>T MANE Select ENSP00000254958.4:p.Ala853=
ENST00000617965.2:n.3148C>T
ENST00000254958.9:c.2559C>T ENSP00000254958.4:p.Ala853=
ENST00000423891.6:n.2425C>T
NM_000214.2:c.2559C>T NP_000205.1:p.Ala853=
NM_000214.3:c.2559C>T MANE Select NP_000205.1:p.Ala853=