Canonical Allele Identifier: CA1884231303

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497310G= , CM000671.2:g.136497310G=	GRCh38
NC_000009.11:g.139391762G= , CM000671.1:g.139391762G=	GRCh37
NC_000009.10:g.138511583G=	NCBI36
NG_007458.1:g.53477C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6429C= MANE Select	ENSP00000498587.1:p.Asn2143=
ENST00000679595.1:c.*1469C=	ENSP00000506241.1:n.*1469C=
ENST00000679969.1:n.3025C=
ENST00000680003.1:n.2761C=
ENST00000680133.1:c.6315C=	ENSP00000505319.1:p.Asn2105=
ENST00000680218.1:c.6309C=	ENSP00000505339.1:p.Asn2103=
ENST00000680668.1:c.6315C=	ENSP00000506336.1:p.Asn2105=
ENST00000680778.1:c.4026C=	ENSP00000506033.1:p.Asn1342=
ENST00000680924.1:c.*3829C=	ENSP00000506031.1:n.*3829C=
ENST00000681135.1:c.*4038C=	ENSP00000506636.1:n.*4038C=
ENST00000681298.1:n.4534C=
ENST00000681454.1:c.*5665C=	ENSP00000505763.1:n.*5665C=
ENST00000277541.6:c.6429C=	ENSP00000277541.6:p.Asn2143=
NM_017617.3:c.6429C=	NP_060087.3:p.Asn2143=
XM_011518717.1:c.5730C=	XP_011517019.1:p.Asn1910=
NM_017617.5:c.6429C= MANE Select	NP_060087.3:p.Asn2143=
XM_011518717.2:c.5706C=	XP_011517019.2:p.Asn1902=