Canonical Allele Identifier: CA408234837
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644864C>A , CM000682.2:g.10644864C>A GRCh38
NC_000020.10:g.10625512C>A , CM000682.1:g.10625512C>A GRCh37
NC_000020.9:g.10573512C>A NCBI36
NG_007496.1:g.34183G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2343G>T MANE Select ENSP00000254958.4:p.Gln781His
ENST00000617965.2:n.2932G>T
ENST00000254958.9:c.2343G>T ENSP00000254958.4:p.Gln781His
ENST00000423891.6:n.2209G>T
ENST00000488480.2:n.740G>T
NM_000214.2:c.2343G>T NP_000205.1:p.Gln781His
NM_000214.3:c.2343G>T MANE Select NP_000205.1:p.Gln781His