Canonical Allele Identifier: CA1884231357

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497347C= , CM000671.2:g.136497347C=	GRCh38
NC_000009.11:g.139391799C= , CM000671.1:g.139391799C=	GRCh37
NC_000009.10:g.138511620C=	NCBI36
NG_007458.1:g.53440G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6392G= MANE Select	ENSP00000498587.1:p.Gly2131=
ENST00000679595.1:c.*1432G=	ENSP00000506241.1:n.*1432G=
ENST00000679969.1:n.2988G=
ENST00000680003.1:n.2724G=
ENST00000680133.1:c.6278G=	ENSP00000505319.1:p.Gly2093=
ENST00000680218.1:c.6272G=	ENSP00000505339.1:p.Gly2091=
ENST00000680668.1:c.6278G=	ENSP00000506336.1:p.Gly2093=
ENST00000680778.1:c.3989G=	ENSP00000506033.1:p.Gly1330=
ENST00000680924.1:c.*3792G=	ENSP00000506031.1:n.*3792G=
ENST00000681135.1:c.*4001G=	ENSP00000506636.1:n.*4001G=
ENST00000681298.1:n.4497G=
ENST00000681454.1:c.*5628G=	ENSP00000505763.1:n.*5628G=
ENST00000277541.6:c.6392G=	ENSP00000277541.6:p.Gly2131=
NM_017617.3:c.6392G=	NP_060087.3:p.Gly2131=
XM_011518717.1:c.5693G=	XP_011517019.1:p.Gly1898=
NM_017617.5:c.6392G= MANE Select	NP_060087.3:p.Gly2131=
XM_011518717.2:c.5669G=	XP_011517019.2:p.Gly1890=