Canonical Allele Identifier: CA1884231312

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497316C= , CM000671.2:g.136497316C=	GRCh38
NC_000009.11:g.139391768C= , CM000671.1:g.139391768C=	GRCh37
NC_000009.10:g.138511589C=	NCBI36
NG_007458.1:g.53471G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6423G= MANE Select	ENSP00000498587.1:p.Ser2141=
ENST00000679595.1:c.*1463G=	ENSP00000506241.1:n.*1463G=
ENST00000679969.1:n.3019G=
ENST00000680003.1:n.2755G=
ENST00000680133.1:c.6309G=	ENSP00000505319.1:p.Ser2103=
ENST00000680218.1:c.6303G=	ENSP00000505339.1:p.Ser2101=
ENST00000680668.1:c.6309G=	ENSP00000506336.1:p.Ser2103=
ENST00000680778.1:c.4020G=	ENSP00000506033.1:p.Ser1340=
ENST00000680924.1:c.*3823G=	ENSP00000506031.1:n.*3823G=
ENST00000681135.1:c.*4032G=	ENSP00000506636.1:n.*4032G=
ENST00000681298.1:n.4528G=
ENST00000681454.1:c.*5659G=	ENSP00000505763.1:n.*5659G=
ENST00000277541.6:c.6423G=	ENSP00000277541.6:p.Ser2141=
NM_017617.3:c.6423G=	NP_060087.3:p.Ser2141=
XM_011518717.1:c.5724G=	XP_011517019.1:p.Ser1908=
NM_017617.5:c.6423G= MANE Select	NP_060087.3:p.Ser2141=
XM_011518717.2:c.5700G=	XP_011517019.2:p.Ser1900=