Canonical Allele Identifier: CA1884231390

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497376G= , CM000671.2:g.136497376G=	GRCh38
NC_000009.11:g.139391828G= , CM000671.1:g.139391828G=	GRCh37
NC_000009.10:g.138511649G=	NCBI36
NG_007458.1:g.53411C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6363C= MANE Select	ENSP00000498587.1:p.Ser2121=
ENST00000679595.1:c.*1403C=	ENSP00000506241.1:n.*1403C=
ENST00000679969.1:n.2959C=
ENST00000680003.1:n.2695C=
ENST00000680133.1:c.6249C=	ENSP00000505319.1:p.Ser2083=
ENST00000680218.1:c.6243C=	ENSP00000505339.1:p.Ser2081=
ENST00000680668.1:c.6249C=	ENSP00000506336.1:p.Ser2083=
ENST00000680778.1:c.3960C=	ENSP00000506033.1:p.Ser1320=
ENST00000680924.1:c.*3763C=	ENSP00000506031.1:n.*3763C=
ENST00000681135.1:c.*3972C=	ENSP00000506636.1:n.*3972C=
ENST00000681298.1:n.4468C=
ENST00000681454.1:c.*5599C=	ENSP00000505763.1:n.*5599C=
ENST00000277541.6:c.6363C=	ENSP00000277541.6:p.Ser2121=
NM_017617.3:c.6363C=	NP_060087.3:p.Ser2121=
XM_011518717.1:c.5664C=	XP_011517019.1:p.Ser1888=
NM_017617.5:c.6363C= MANE Select	NP_060087.3:p.Ser2121=
XM_011518717.2:c.5640C=	XP_011517019.2:p.Ser1880=