Canonical Allele Identifier: CA1884231225
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497234C= , CM000671.2:g.136497234C= GRCh38
NC_000009.11:g.139391686C= , CM000671.1:g.139391686C= GRCh37
NC_000009.10:g.138511507C= NCBI36
NG_007458.1:g.53553G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6505G= MANE Select ENSP00000498587.1:p.Gly2169=
ENST00000679595.1:c.*1545G= ENSP00000506241.1:n.*1545G=
ENST00000679969.1:n.3101G=
ENST00000680003.1:n.2837G=
ENST00000680133.1:c.6391G= ENSP00000505319.1:p.Gly2131=
ENST00000680218.1:c.6385G= ENSP00000505339.1:p.Gly2129=
ENST00000680668.1:c.6391G= ENSP00000506336.1:p.Gly2131=
ENST00000680778.1:c.4102G= ENSP00000506033.1:p.Gly1368=
ENST00000680924.1:c.*3905G= ENSP00000506031.1:n.*3905G=
ENST00000681135.1:c.*4114G= ENSP00000506636.1:n.*4114G=
ENST00000681298.1:n.4610G=
ENST00000681454.1:c.*5741G= ENSP00000505763.1:n.*5741G=
ENST00000277541.6:c.6505G= ENSP00000277541.6:p.Gly2169=
NM_017617.3:c.6505G= NP_060087.3:p.Gly2169=
XM_011518717.1:c.5806G= XP_011517019.1:p.Gly1936=
NM_017617.5:c.6505G= MANE Select NP_060087.3:p.Gly2169=
XM_011518717.2:c.5782G= XP_011517019.2:p.Gly1928=