Canonical Allele Identifier: CA3165601235

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517848A= , CM000671.2:g.136517848A=	GRCh38
NC_000009.11:g.139412300A= , CM000671.1:g.139412300A=	GRCh37
NC_000009.10:g.138532121A=	NCBI36
NG_007458.1:g.32939T=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.1345T= MANE Select	NP_060087.3:p.Cys449=
ENST00000651671.1:c.1345T= MANE Select	ENSP00000498587.1:p.Cys449=
NM_017617.3:c.1345T=	NP_060087.3:p.Cys449=
ENST00000277541.6:c.1345T=	ENSP00000277541.6:p.Cys449=
ENST00000679595.1:c.1345T=	ENSP00000506241.1:p.Cys449=
ENST00000680133.1:c.1345T=	ENSP00000505319.1:p.Cys449=
ENST00000680218.1:c.1345T=	ENSP00000505339.1:p.Cys449=
ENST00000680668.1:c.1345T=	ENSP00000506336.1:p.Cys449=
ENST00000680924.1:c.1345T=	ENSP00000506031.1:p.Cys449=
ENST00000681135.1:c.1345T=	ENSP00000506636.1:p.Cys449=
ENST00000681454.1:c.*581T=	ENSP00000505763.1:n.*581T=
XM_011518717.1:c.646T=	XP_011517019.1:p.Cys216=
XM_011518717.2:c.622T=	XP_011517019.2:p.Cys208=