Canonical Allele Identifier: CA1884231167

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497171G= , CM000671.2:g.136497171G=	GRCh38
NC_000009.11:g.139391623G= , CM000671.1:g.139391623G=	GRCh37
NC_000009.10:g.138511444G=	NCBI36
NG_007458.1:g.53616C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6568C= MANE Select	ENSP00000498587.1:p.Leu2190=
ENST00000679595.1:c.*1608C=	ENSP00000506241.1:n.*1608C=
ENST00000679969.1:n.3164C=
ENST00000680003.1:n.2900C=
ENST00000680133.1:c.6454C=	ENSP00000505319.1:p.Leu2152=
ENST00000680218.1:c.6448C=	ENSP00000505339.1:p.Leu2150=
ENST00000680668.1:c.6454C=	ENSP00000506336.1:p.Leu2152=
ENST00000680778.1:c.4165C=	ENSP00000506033.1:p.Leu1389=
ENST00000680924.1:c.*3968C=	ENSP00000506031.1:n.*3968C=
ENST00000681135.1:c.*4177C=	ENSP00000506636.1:n.*4177C=
ENST00000681298.1:n.4673C=
ENST00000681454.1:c.*5804C=	ENSP00000505763.1:n.*5804C=
ENST00000277541.6:c.6568C=	ENSP00000277541.6:p.Leu2190=
NM_017617.3:c.6568C=	NP_060087.3:p.Leu2190=
XM_011518717.1:c.5869C=	XP_011517019.1:p.Leu1957=
NM_017617.5:c.6568C= MANE Select	NP_060087.3:p.Leu2190=
XM_011518717.2:c.5845C=	XP_011517019.2:p.Leu1949=