Canonical Allele Identifier: CA1884231513

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497486C= , CM000671.2:g.136497486C=	GRCh38
NC_000009.11:g.139391938C= , CM000671.1:g.139391938C=	GRCh37
NC_000009.10:g.138511759C=	NCBI36
NG_007458.1:g.53301G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6253G= MANE Select	ENSP00000498587.1:p.Ala2085=
ENST00000679595.1:c.*1293G=	ENSP00000506241.1:n.*1293G=
ENST00000679969.1:n.2849G=
ENST00000680003.1:n.2585G=
ENST00000680133.1:c.6139G=	ENSP00000505319.1:p.Ala2047=
ENST00000680218.1:c.6133G=	ENSP00000505339.1:p.Ala2045=
ENST00000680668.1:c.6139G=	ENSP00000506336.1:p.Ala2047=
ENST00000680778.1:c.3850G=	ENSP00000506033.1:p.Ala1284=
ENST00000680924.1:c.*3653G=	ENSP00000506031.1:n.*3653G=
ENST00000681135.1:c.*3862G=	ENSP00000506636.1:n.*3862G=
ENST00000681298.1:n.4358G=
ENST00000681454.1:c.*5489G=	ENSP00000505763.1:n.*5489G=
ENST00000277541.6:c.6253G=	ENSP00000277541.6:p.Ala2085=
NM_017617.3:c.6253G=	NP_060087.3:p.Ala2085=
XM_011518717.1:c.5554G=	XP_011517019.1:p.Ala1852=
NM_017617.5:c.6253G= MANE Select	NP_060087.3:p.Ala2085=
XM_011518717.2:c.5530G=	XP_011517019.2:p.Ala1844=