Canonical Allele Identifier: CA408238370
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650251C>A , CM000682.2:g.10650251C>A GRCh38
NC_000020.10:g.10630899C>A , CM000682.1:g.10630899C>A GRCh37
NC_000020.9:g.10578899C>A NCBI36
NG_007496.1:g.28796G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1230G>T MANE Select ENSP00000254958.4:p.Gln410His
ENST00000617965.2:n.1819G>T
ENST00000254958.9:c.1230G>T ENSP00000254958.4:p.Gln410His
ENST00000423891.6:n.1096G>T
ENST00000622545.1:c.7G>T
NM_000214.2:c.1230G>T NP_000205.1:p.Gln410His
NM_000214.3:c.1230G>T MANE Select NP_000205.1:p.Gln410His