Canonical Allele Identifier: CA1884231186

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497193C= , CM000671.2:g.136497193C=	GRCh38
NC_000009.11:g.139391645C= , CM000671.1:g.139391645C=	GRCh37
NC_000009.10:g.138511466C=	NCBI36
NG_007458.1:g.53594G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6546G= MANE Select	ENSP00000498587.1:p.Lys2182=
ENST00000679595.1:c.*1586G=	ENSP00000506241.1:n.*1586G=
ENST00000679969.1:n.3142G=
ENST00000680003.1:n.2878G=
ENST00000680133.1:c.6432G=	ENSP00000505319.1:p.Lys2144=
ENST00000680218.1:c.6426G=	ENSP00000505339.1:p.Lys2142=
ENST00000680668.1:c.6432G=	ENSP00000506336.1:p.Lys2144=
ENST00000680778.1:c.4143G=	ENSP00000506033.1:p.Lys1381=
ENST00000680924.1:c.*3946G=	ENSP00000506031.1:n.*3946G=
ENST00000681135.1:c.*4155G=	ENSP00000506636.1:n.*4155G=
ENST00000681298.1:n.4651G=
ENST00000681454.1:c.*5782G=	ENSP00000505763.1:n.*5782G=
ENST00000277541.6:c.6546G=	ENSP00000277541.6:p.Lys2182=
NM_017617.3:c.6546G=	NP_060087.3:p.Lys2182=
XM_011518717.1:c.5847G=	XP_011517019.1:p.Lys1949=
NM_017617.5:c.6546G= MANE Select	NP_060087.3:p.Lys2182=
XM_011518717.2:c.5823G=	XP_011517019.2:p.Lys1941=