Canonical Allele Identifier: CA1884231205

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497214G= , CM000671.2:g.136497214G=	GRCh38
NC_000009.11:g.139391666G= , CM000671.1:g.139391666G=	GRCh37
NC_000009.10:g.138511487G=	NCBI36
NG_007458.1:g.53573C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6525C= MANE Select	ENSP00000498587.1:p.Asp2175=
ENST00000679595.1:c.*1565C=	ENSP00000506241.1:n.*1565C=
ENST00000679969.1:n.3121C=
ENST00000680003.1:n.2857C=
ENST00000680133.1:c.6411C=	ENSP00000505319.1:p.Asp2137=
ENST00000680218.1:c.6405C=	ENSP00000505339.1:p.Asp2135=
ENST00000680668.1:c.6411C=	ENSP00000506336.1:p.Asp2137=
ENST00000680778.1:c.4122C=	ENSP00000506033.1:p.Asp1374=
ENST00000680924.1:c.*3925C=	ENSP00000506031.1:n.*3925C=
ENST00000681135.1:c.*4134C=	ENSP00000506636.1:n.*4134C=
ENST00000681298.1:n.4630C=
ENST00000681454.1:c.*5761C=	ENSP00000505763.1:n.*5761C=
ENST00000277541.6:c.6525C=	ENSP00000277541.6:p.Asp2175=
NM_017617.3:c.6525C=	NP_060087.3:p.Asp2175=
XM_011518717.1:c.5826C=	XP_011517019.1:p.Asp1942=
NM_017617.5:c.6525C= MANE Select	NP_060087.3:p.Asp2175=
XM_011518717.2:c.5802C=	XP_011517019.2:p.Asp1934=