Canonical Allele Identifier: CA1884231254

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497263C= , CM000671.2:g.136497263C=	GRCh38
NC_000009.11:g.139391715C= , CM000671.1:g.139391715C=	GRCh37
NC_000009.10:g.138511536C=	NCBI36
NG_007458.1:g.53524G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6476G= MANE Select	ENSP00000498587.1:p.Arg2159=
ENST00000679595.1:c.*1516G=	ENSP00000506241.1:n.*1516G=
ENST00000679969.1:n.3072G=
ENST00000680003.1:n.2808G=
ENST00000680133.1:c.6362G=	ENSP00000505319.1:p.Arg2121=
ENST00000680218.1:c.6356G=	ENSP00000505339.1:p.Arg2119=
ENST00000680668.1:c.6362G=	ENSP00000506336.1:p.Arg2121=
ENST00000680778.1:c.4073G=	ENSP00000506033.1:p.Arg1358=
ENST00000680924.1:c.*3876G=	ENSP00000506031.1:n.*3876G=
ENST00000681135.1:c.*4085G=	ENSP00000506636.1:n.*4085G=
ENST00000681298.1:n.4581G=
ENST00000681454.1:c.*5712G=	ENSP00000505763.1:n.*5712G=
ENST00000277541.6:c.6476G=	ENSP00000277541.6:p.Arg2159=
NM_017617.3:c.6476G=	NP_060087.3:p.Arg2159=
XM_011518717.1:c.5777G=	XP_011517019.1:p.Arg1926=
NM_017617.5:c.6476G= MANE Select	NP_060087.3:p.Arg2159=
XM_011518717.2:c.5753G=	XP_011517019.2:p.Arg1918=