Canonical Allele Identifier: CA3165601231

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505776A= , CM000671.2:g.136505776A=	GRCh38
NC_000009.11:g.139400228A= , CM000671.1:g.139400228A=	GRCh37
NC_000009.10:g.138520049A=	NCBI36
NG_007458.1:g.45011T=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.4120T= MANE Select	NP_060087.3:p.Cys1374=
ENST00000651671.1:c.4120T= MANE Select	ENSP00000498587.1:p.Cys1374=
NM_017617.3:c.4120T=	NP_060087.3:p.Cys1374=
ENST00000277541.6:c.4120T=	ENSP00000277541.6:p.Cys1374=
ENST00000645828.1:n.1927T=
ENST00000679595.1:c.4120T=	ENSP00000506241.1:p.Cys1374=
ENST00000680133.1:c.4006T=	ENSP00000505319.1:p.Cys1336=
ENST00000680218.1:c.4000T=	ENSP00000505339.1:p.Cys1334=
ENST00000680668.1:c.4006T=	ENSP00000506336.1:p.Cys1336=
ENST00000680778.1:c.1717T=	ENSP00000506033.1:p.Cys573=
ENST00000680924.1:c.*1520T=	ENSP00000506031.1:n.*1520T=
ENST00000681135.1:c.*1729T=	ENSP00000506636.1:n.*1729T=
ENST00000681298.1:n.933T=
ENST00000681454.1:c.*3356T=	ENSP00000505763.1:n.*3356T=
XM_011518717.1:c.3421T=	XP_011517019.1:p.Cys1141=
XM_011518717.2:c.3397T=	XP_011517019.2:p.Cys1133=