Canonical Allele Identifier: CA1884231172
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497176C= , CM000671.2:g.136497176C= GRCh38
NC_000009.11:g.139391628C= , CM000671.1:g.139391628C= GRCh37
NC_000009.10:g.138511449C= NCBI36
NG_007458.1:g.53611G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6563G= MANE Select ENSP00000498587.1:p.Gly2188=
ENST00000679595.1:c.*1603G= ENSP00000506241.1:n.*1603G=
ENST00000679969.1:n.3159G=
ENST00000680003.1:n.2895G=
ENST00000680133.1:c.6449G= ENSP00000505319.1:p.Gly2150=
ENST00000680218.1:c.6443G= ENSP00000505339.1:p.Gly2148=
ENST00000680668.1:c.6449G= ENSP00000506336.1:p.Gly2150=
ENST00000680778.1:c.4160G= ENSP00000506033.1:p.Gly1387=
ENST00000680924.1:c.*3963G= ENSP00000506031.1:n.*3963G=
ENST00000681135.1:c.*4172G= ENSP00000506636.1:n.*4172G=
ENST00000681298.1:n.4668G=
ENST00000681454.1:c.*5799G= ENSP00000505763.1:n.*5799G=
ENST00000277541.6:c.6563G= ENSP00000277541.6:p.Gly2188=
NM_017617.3:c.6563G= NP_060087.3:p.Gly2188=
XM_011518717.1:c.5864G= XP_011517019.1:p.Gly1955=
NM_017617.5:c.6563G= MANE Select NP_060087.3:p.Gly2188=
XM_011518717.2:c.5840G= XP_011517019.2:p.Gly1947=