Canonical Allele Identifier: CA1884231230
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497237A= , CM000671.2:g.136497237A= GRCh38
NC_000009.11:g.139391689A= , CM000671.1:g.139391689A= GRCh37
NC_000009.10:g.138511510A= NCBI36
NG_007458.1:g.53550T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6502T= MANE Select ENSP00000498587.1:p.Cys2168=
ENST00000679595.1:c.*1542T= ENSP00000506241.1:n.*1542T=
ENST00000679969.1:n.3098T=
ENST00000680003.1:n.2834T=
ENST00000680133.1:c.6388T= ENSP00000505319.1:p.Cys2130=
ENST00000680218.1:c.6382T= ENSP00000505339.1:p.Cys2128=
ENST00000680668.1:c.6388T= ENSP00000506336.1:p.Cys2130=
ENST00000680778.1:c.4099T= ENSP00000506033.1:p.Cys1367=
ENST00000680924.1:c.*3902T= ENSP00000506031.1:n.*3902T=
ENST00000681135.1:c.*4111T= ENSP00000506636.1:n.*4111T=
ENST00000681298.1:n.4607T=
ENST00000681454.1:c.*5738T= ENSP00000505763.1:n.*5738T=
ENST00000277541.6:c.6502T= ENSP00000277541.6:p.Cys2168=
NM_017617.3:c.6502T= NP_060087.3:p.Cys2168=
XM_011518717.1:c.5803T= XP_011517019.1:p.Cys1935=
NM_017617.5:c.6502T= MANE Select NP_060087.3:p.Cys2168=
XM_011518717.2:c.5779T= XP_011517019.2:p.Cys1927=