Canonical Allele Identifier: CA1884231384

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497370C= , CM000671.2:g.136497370C=	GRCh38
NC_000009.11:g.139391822C= , CM000671.1:g.139391822C=	GRCh37
NC_000009.10:g.138511643C=	NCBI36
NG_007458.1:g.53417G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6369G= MANE Select	ENSP00000498587.1:p.Gln2123=
ENST00000679595.1:c.*1409G=	ENSP00000506241.1:n.*1409G=
ENST00000679969.1:n.2965G=
ENST00000680003.1:n.2701G=
ENST00000680133.1:c.6255G=	ENSP00000505319.1:p.Gln2085=
ENST00000680218.1:c.6249G=	ENSP00000505339.1:p.Gln2083=
ENST00000680668.1:c.6255G=	ENSP00000506336.1:p.Gln2085=
ENST00000680778.1:c.3966G=	ENSP00000506033.1:p.Gln1322=
ENST00000680924.1:c.*3769G=	ENSP00000506031.1:n.*3769G=
ENST00000681135.1:c.*3978G=	ENSP00000506636.1:n.*3978G=
ENST00000681298.1:n.4474G=
ENST00000681454.1:c.*5605G=	ENSP00000505763.1:n.*5605G=
ENST00000277541.6:c.6369G=	ENSP00000277541.6:p.Gln2123=
NM_017617.3:c.6369G=	NP_060087.3:p.Gln2123=
XM_011518717.1:c.5670G=	XP_011517019.1:p.Gln1890=
NM_017617.5:c.6369G= MANE Select	NP_060087.3:p.Gln2123=
XM_011518717.2:c.5646G=	XP_011517019.2:p.Gln1882=