Canonical Allele Identifier: CA1884231193

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497203C= , CM000671.2:g.136497203C=	GRCh38
NC_000009.11:g.139391655C= , CM000671.1:g.139391655C=	GRCh37
NC_000009.10:g.138511476C=	NCBI36
NG_007458.1:g.53584G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6536G= MANE Select	ENSP00000498587.1:p.Arg2179=
ENST00000679595.1:c.*1576G=	ENSP00000506241.1:n.*1576G=
ENST00000679969.1:n.3132G=
ENST00000680003.1:n.2868G=
ENST00000680133.1:c.6422G=	ENSP00000505319.1:p.Arg2141=
ENST00000680218.1:c.6416G=	ENSP00000505339.1:p.Arg2139=
ENST00000680668.1:c.6422G=	ENSP00000506336.1:p.Arg2141=
ENST00000680778.1:c.4133G=	ENSP00000506033.1:p.Arg1378=
ENST00000680924.1:c.*3936G=	ENSP00000506031.1:n.*3936G=
ENST00000681135.1:c.*4145G=	ENSP00000506636.1:n.*4145G=
ENST00000681298.1:n.4641G=
ENST00000681454.1:c.*5772G=	ENSP00000505763.1:n.*5772G=
ENST00000277541.6:c.6536G=	ENSP00000277541.6:p.Arg2179=
NM_017617.3:c.6536G=	NP_060087.3:p.Arg2179=
XM_011518717.1:c.5837G=	XP_011517019.1:p.Arg1946=
NM_017617.5:c.6536G= MANE Select	NP_060087.3:p.Arg2179=
XM_011518717.2:c.5813G=	XP_011517019.2:p.Arg1938=