Canonical Allele Identifier: CA1884231316
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497320C= , CM000671.2:g.136497320C= GRCh38
NC_000009.11:g.139391772C= , CM000671.1:g.139391772C= GRCh37
NC_000009.10:g.138511593C= NCBI36
NG_007458.1:g.53467G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6419G= MANE Select ENSP00000498587.1:p.Cys2140=
ENST00000679595.1:c.*1459G= ENSP00000506241.1:n.*1459G=
ENST00000679969.1:n.3015G=
ENST00000680003.1:n.2751G=
ENST00000680133.1:c.6305G= ENSP00000505319.1:p.Cys2102=
ENST00000680218.1:c.6299G= ENSP00000505339.1:p.Cys2100=
ENST00000680668.1:c.6305G= ENSP00000506336.1:p.Cys2102=
ENST00000680778.1:c.4016G= ENSP00000506033.1:p.Cys1339=
ENST00000680924.1:c.*3819G= ENSP00000506031.1:n.*3819G=
ENST00000681135.1:c.*4028G= ENSP00000506636.1:n.*4028G=
ENST00000681298.1:n.4524G=
ENST00000681454.1:c.*5655G= ENSP00000505763.1:n.*5655G=
ENST00000277541.6:c.6419G= ENSP00000277541.6:p.Cys2140=
NM_017617.3:c.6419G= NP_060087.3:p.Cys2140=
XM_011518717.1:c.5720G= XP_011517019.1:p.Cys1907=
NM_017617.5:c.6419G= MANE Select NP_060087.3:p.Cys2140=
XM_011518717.2:c.5696G= XP_011517019.2:p.Cys1899=