Canonical Allele Identifier: CA1884231185

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497191G= , CM000671.2:g.136497191G=	GRCh38
NC_000009.11:g.139391643G= , CM000671.1:g.139391643G=	GRCh37
NC_000009.10:g.138511464G=	NCBI36
NG_007458.1:g.53596C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6548C= MANE Select	ENSP00000498587.1:p.Ser2183=
ENST00000679595.1:c.*1588C=	ENSP00000506241.1:n.*1588C=
ENST00000679969.1:n.3144C=
ENST00000680003.1:n.2880C=
ENST00000680133.1:c.6434C=	ENSP00000505319.1:p.Ser2145=
ENST00000680218.1:c.6428C=	ENSP00000505339.1:p.Ser2143=
ENST00000680668.1:c.6434C=	ENSP00000506336.1:p.Ser2145=
ENST00000680778.1:c.4145C=	ENSP00000506033.1:p.Ser1382=
ENST00000680924.1:c.*3948C=	ENSP00000506031.1:n.*3948C=
ENST00000681135.1:c.*4157C=	ENSP00000506636.1:n.*4157C=
ENST00000681298.1:n.4653C=
ENST00000681454.1:c.*5784C=	ENSP00000505763.1:n.*5784C=
ENST00000277541.6:c.6548C=	ENSP00000277541.6:p.Ser2183=
NM_017617.3:c.6548C=	NP_060087.3:p.Ser2183=
XM_011518717.1:c.5849C=	XP_011517019.1:p.Ser1950=
NM_017617.5:c.6548C= MANE Select	NP_060087.3:p.Ser2183=
XM_011518717.2:c.5825C=	XP_011517019.2:p.Ser1942=