Canonical Allele Identifier: CA1884231183

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497187C= , CM000671.2:g.136497187C=	GRCh38
NC_000009.11:g.139391639C= , CM000671.1:g.139391639C=	GRCh37
NC_000009.10:g.138511460C=	NCBI36
NG_007458.1:g.53600G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6552G= MANE Select	ENSP00000498587.1:p.Gln2184=
ENST00000679595.1:c.*1592G=	ENSP00000506241.1:n.*1592G=
ENST00000679969.1:n.3148G=
ENST00000680003.1:n.2884G=
ENST00000680133.1:c.6438G=	ENSP00000505319.1:p.Gln2146=
ENST00000680218.1:c.6432G=	ENSP00000505339.1:p.Gln2144=
ENST00000680668.1:c.6438G=	ENSP00000506336.1:p.Gln2146=
ENST00000680778.1:c.4149G=	ENSP00000506033.1:p.Gln1383=
ENST00000680924.1:c.*3952G=	ENSP00000506031.1:n.*3952G=
ENST00000681135.1:c.*4161G=	ENSP00000506636.1:n.*4161G=
ENST00000681298.1:n.4657G=
ENST00000681454.1:c.*5788G=	ENSP00000505763.1:n.*5788G=
ENST00000277541.6:c.6552G=	ENSP00000277541.6:p.Gln2184=
NM_017617.3:c.6552G=	NP_060087.3:p.Gln2184=
XM_011518717.1:c.5853G=	XP_011517019.1:p.Gln1951=
NM_017617.5:c.6552G= MANE Select	NP_060087.3:p.Gln2184=
XM_011518717.2:c.5829G=	XP_011517019.2:p.Gln1943=