Canonical Allele Identifier: CA3165606840

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517851G= , CM000671.2:g.136517851G=	GRCh38
NC_000009.11:g.139412303G= , CM000671.1:g.139412303G=	GRCh37
NC_000009.10:g.138532124G=	NCBI36
NG_007458.1:g.32936C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.1342C= MANE Select	NP_060087.3:p.Arg448=
ENST00000651671.1:c.1342C= MANE Select	ENSP00000498587.1:p.Arg448=
NM_017617.3:c.1342C=	NP_060087.3:p.Arg448=
ENST00000277541.6:c.1342C=	ENSP00000277541.6:p.Arg448=
ENST00000679595.1:c.1342C=	ENSP00000506241.1:p.Arg448=
ENST00000680133.1:c.1342C=	ENSP00000505319.1:p.Arg448=
ENST00000680218.1:c.1342C=	ENSP00000505339.1:p.Arg448=
ENST00000680668.1:c.1342C=	ENSP00000506336.1:p.Arg448=
ENST00000680924.1:c.1342C=	ENSP00000506031.1:p.Arg448=
ENST00000681135.1:c.1342C=	ENSP00000506636.1:p.Arg448=
ENST00000681454.1:c.*578C=	ENSP00000505763.1:n.*578C=
XM_011518717.1:c.643C=	XP_011517019.1:p.Arg215=
XM_011518717.2:c.619C=	XP_011517019.2:p.Arg207=