Canonical Allele Identifier: CA408234842
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644866G>C , CM000682.2:g.10644866G>C GRCh38
NC_000020.10:g.10625514G>C , CM000682.1:g.10625514G>C GRCh37
NC_000020.9:g.10573514G>C NCBI36
NG_007496.1:g.34181C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2341C>G MANE Select ENSP00000254958.4:p.Gln781Glu
ENST00000617965.2:n.2930C>G
ENST00000254958.9:c.2341C>G ENSP00000254958.4:p.Gln781Glu
ENST00000423891.6:n.2207C>G
ENST00000488480.2:n.738C>G
NM_000214.2:c.2341C>G NP_000205.1:p.Gln781Glu
NM_000214.3:c.2341C>G MANE Select NP_000205.1:p.Gln781Glu