Canonical Allele Identifier: CA1884231189

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497197T= , CM000671.2:g.136497197T=	GRCh38
NC_000009.11:g.139391649T= , CM000671.1:g.139391649T=	GRCh37
NC_000009.10:g.138511470T=	NCBI36
NG_007458.1:g.53590A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6542A= MANE Select	ENSP00000498587.1:p.Lys2181=
ENST00000679595.1:c.*1582A=	ENSP00000506241.1:n.*1582A=
ENST00000679969.1:n.3138A=
ENST00000680003.1:n.2874A=
ENST00000680133.1:c.6428A=	ENSP00000505319.1:p.Lys2143=
ENST00000680218.1:c.6422A=	ENSP00000505339.1:p.Lys2141=
ENST00000680668.1:c.6428A=	ENSP00000506336.1:p.Lys2143=
ENST00000680778.1:c.4139A=	ENSP00000506033.1:p.Lys1380=
ENST00000680924.1:c.*3942A=	ENSP00000506031.1:n.*3942A=
ENST00000681135.1:c.*4151A=	ENSP00000506636.1:n.*4151A=
ENST00000681298.1:n.4647A=
ENST00000681454.1:c.*5778A=	ENSP00000505763.1:n.*5778A=
ENST00000277541.6:c.6542A=	ENSP00000277541.6:p.Lys2181=
NM_017617.3:c.6542A=	NP_060087.3:p.Lys2181=
XM_011518717.1:c.5843A=	XP_011517019.1:p.Lys1948=
NM_017617.5:c.6542A= MANE Select	NP_060087.3:p.Lys2181=
XM_011518717.2:c.5819A=	XP_011517019.2:p.Lys1940=