Canonical Allele Identifier: CA3165921489
Community Standard Title: NM_017617.5(NOTCH1):c.3765C= (p.Cys1255=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136506852G= , CM000671.2:g.136506852G= GRCh38
NC_000009.11:g.139401304G= , CM000671.1:g.139401304G= GRCh37
NC_000009.10:g.138521125G= NCBI36
NG_007458.1:g.43935C=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.3765C= MANE Select NP_060087.3:p.Cys1255=
ENST00000651671.1:c.3765C= MANE Select ENSP00000498587.1:p.Cys1255=
NM_017617.3:c.3765C= NP_060087.3:p.Cys1255=
ENST00000277541.6:c.3765C= ENSP00000277541.6:p.Cys1255=
ENST00000645828.1:n.1572C=
ENST00000679595.1:c.3765C= ENSP00000506241.1:p.Cys1255=
ENST00000680133.1:c.3651C= ENSP00000505319.1:p.Cys1217=
ENST00000680218.1:c.3765C= ENSP00000505339.1:p.Cys1255=
ENST00000680668.1:c.3651C= ENSP00000506336.1:p.Cys1217=
ENST00000680778.1:c.1362C= ENSP00000506033.1:p.Cys454=
ENST00000680924.1:c.*1165C= ENSP00000506031.1:n.*1165C=
ENST00000681135.1:c.*1374C= ENSP00000506636.1:n.*1374C=
ENST00000681298.1:n.578C=
ENST00000681454.1:c.*3001C= ENSP00000505763.1:n.*3001C=
XM_011518717.1:c.3066C= XP_011517019.1:p.Cys1022=
XM_011518717.2:c.3042C= XP_011517019.2:p.Cys1014=