Canonical Allele Identifier: CA3165345368

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505384G= , CM000671.2:g.136505384G=	GRCh38
NC_000009.11:g.139399836G= , CM000671.1:g.139399836G=	GRCh37
NC_000009.10:g.138519657G=	NCBI36
NG_007458.1:g.45403C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.4512C= MANE Select	NP_060087.3:p.His1504=
ENST00000651671.1:c.4512C= MANE Select	ENSP00000498587.1:p.His1504=
NM_017617.3:c.4512C=	NP_060087.3:p.His1504=
ENST00000277541.6:c.4512C=	ENSP00000277541.6:p.His1504=
ENST00000645828.1:n.2319C=
ENST00000679595.1:c.4512C=	ENSP00000506241.1:p.His1504=
ENST00000680133.1:c.4398C=	ENSP00000505319.1:p.His1466=
ENST00000680218.1:c.4392C=	ENSP00000505339.1:p.His1464=
ENST00000680668.1:c.4398C=	ENSP00000506336.1:p.His1466=
ENST00000680778.1:c.2109C=	ENSP00000506033.1:p.His703=
ENST00000680924.1:c.*1912C=	ENSP00000506031.1:n.*1912C=
ENST00000681135.1:c.*2121C=	ENSP00000506636.1:n.*2121C=
ENST00000681298.1:n.1325C=
ENST00000681454.1:c.*3748C=	ENSP00000505763.1:n.*3748C=
XM_011518717.1:c.3813C=	XP_011517019.1:p.His1271=
XM_011518717.2:c.3789C=	XP_011517019.2:p.His1263=