Canonical Allele Identifier: CA1884231207

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497217C= , CM000671.2:g.136497217C=	GRCh38
NC_000009.11:g.139391669C= , CM000671.1:g.139391669C=	GRCh37
NC_000009.10:g.138511490C=	NCBI36
NG_007458.1:g.53570G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6522G= MANE Select	ENSP00000498587.1:p.Lys2174=
ENST00000679595.1:c.*1562G=	ENSP00000506241.1:n.*1562G=
ENST00000679969.1:n.3118G=
ENST00000680003.1:n.2854G=
ENST00000680133.1:c.6408G=	ENSP00000505319.1:p.Lys2136=
ENST00000680218.1:c.6402G=	ENSP00000505339.1:p.Lys2134=
ENST00000680668.1:c.6408G=	ENSP00000506336.1:p.Lys2136=
ENST00000680778.1:c.4119G=	ENSP00000506033.1:p.Lys1373=
ENST00000680924.1:c.*3922G=	ENSP00000506031.1:n.*3922G=
ENST00000681135.1:c.*4131G=	ENSP00000506636.1:n.*4131G=
ENST00000681298.1:n.4627G=
ENST00000681454.1:c.*5758G=	ENSP00000505763.1:n.*5758G=
ENST00000277541.6:c.6522G=	ENSP00000277541.6:p.Lys2174=
NM_017617.3:c.6522G=	NP_060087.3:p.Lys2174=
XM_011518717.1:c.5823G=	XP_011517019.1:p.Lys1941=
NM_017617.5:c.6522G= MANE Select	NP_060087.3:p.Lys2174=
XM_011518717.2:c.5799G=	XP_011517019.2:p.Lys1933=