Canonical Allele Identifier: CA1884231363

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497353A= , CM000671.2:g.136497353A=	GRCh38
NC_000009.11:g.139391805A= , CM000671.1:g.139391805A=	GRCh37
NC_000009.10:g.138511626A=	NCBI36
NG_007458.1:g.53434T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6386T= MANE Select	ENSP00000498587.1:p.Leu2129=
ENST00000679595.1:c.*1426T=	ENSP00000506241.1:n.*1426T=
ENST00000679969.1:n.2982T=
ENST00000680003.1:n.2718T=
ENST00000680133.1:c.6272T=	ENSP00000505319.1:p.Leu2091=
ENST00000680218.1:c.6266T=	ENSP00000505339.1:p.Leu2089=
ENST00000680668.1:c.6272T=	ENSP00000506336.1:p.Leu2091=
ENST00000680778.1:c.3983T=	ENSP00000506033.1:p.Leu1328=
ENST00000680924.1:c.*3786T=	ENSP00000506031.1:n.*3786T=
ENST00000681135.1:c.*3995T=	ENSP00000506636.1:n.*3995T=
ENST00000681298.1:n.4491T=
ENST00000681454.1:c.*5622T=	ENSP00000505763.1:n.*5622T=
ENST00000277541.6:c.6386T=	ENSP00000277541.6:p.Leu2129=
NM_017617.3:c.6386T=	NP_060087.3:p.Leu2129=
XM_011518717.1:c.5687T=	XP_011517019.1:p.Leu1896=
NM_017617.5:c.6386T= MANE Select	NP_060087.3:p.Leu2129=
XM_011518717.2:c.5663T=	XP_011517019.2:p.Leu1888=