Canonical Allele Identifier: CA10577618
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234578
dbSNP Id: rs876661096

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652483G>A , CM000682.2:g.10652483G>A GRCh38
NC_000020.10:g.10633131G>A , CM000682.1:g.10633131G>A GRCh37
NC_000020.9:g.10581131G>A NCBI36
NG_007496.1:g.26564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.871C>T MANE Select ENSP00000254958.4:p.Gln291Ter
ENST00000617965.2:n.240C>T
ENST00000254958.9:c.871C>T ENSP00000254958.4:p.Gln291Ter
ENST00000423891.6:n.737C>T
ENST00000617965.1:n.240C>T
NM_000214.2:c.871C>T NP_000205.1:p.Gln291Ter
NM_000214.3:c.871C>T MANE Select NP_000205.1:p.Gln291Ter