Canonical Allele Identifier: CA3165535381

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136514694A= , CM000671.2:g.136514694A=	GRCh38
NC_000009.11:g.139409146A= , CM000671.1:g.139409146A=	GRCh37
NC_000009.10:g.138528967A=	NCBI36
NG_007458.1:g.36093T=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.2023T= MANE Select	NP_060087.3:p.Cys675=
ENST00000651671.1:c.2023T= MANE Select	ENSP00000498587.1:p.Cys675=
NM_017617.3:c.2023T=	NP_060087.3:p.Cys675=
ENST00000277541.6:c.2023T=	ENSP00000277541.6:p.Cys675=
ENST00000679595.1:c.2023T=	ENSP00000506241.1:p.Cys675=
ENST00000680133.1:c.1909T=	ENSP00000505319.1:p.Cys637=
ENST00000680218.1:c.2023T=	ENSP00000505339.1:p.Cys675=
ENST00000680668.1:c.1909T=	ENSP00000506336.1:p.Cys637=
ENST00000680924.1:c.2023T=	ENSP00000506031.1:p.Cys675=
ENST00000681135.1:c.2023T=	ENSP00000506636.1:p.Cys675=
ENST00000681454.1:c.*1259T=	ENSP00000505763.1:n.*1259T=
XM_011518717.1:c.1324T=	XP_011517019.1:p.Cys442=
XM_011518717.2:c.1300T=	XP_011517019.2:p.Cys434=