Canonical Allele Identifier: CA1884231133

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497146G= , CM000671.2:g.136497146G=	GRCh38
NC_000009.11:g.139391598G= , CM000671.1:g.139391598G=	GRCh37
NC_000009.10:g.138511419G=	NCBI36
NG_007458.1:g.53641C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.6593C= MANE Select	NP_060087.3:p.Ser2198=
ENST00000651671.1:c.6593C= MANE Select	ENSP00000498587.1:p.Ser2198=
NM_017617.3:c.6593C=	NP_060087.3:p.Ser2198=
ENST00000277541.6:c.6593C=	ENSP00000277541.6:p.Ser2198=
ENST00000679595.1:c.*1633C=	ENSP00000506241.1:n.*1633C=
ENST00000679969.1:n.3189C=
ENST00000680003.1:n.2925C=
ENST00000680133.1:c.6479C=	ENSP00000505319.1:p.Ser2160=
ENST00000680218.1:c.6473C=	ENSP00000505339.1:p.Ser2158=
ENST00000680668.1:c.6479C=	ENSP00000506336.1:p.Ser2160=
ENST00000680778.1:c.4190C=	ENSP00000506033.1:p.Ser1397=
ENST00000680924.1:c.*3993C=	ENSP00000506031.1:n.*3993C=
ENST00000681135.1:c.*4202C=	ENSP00000506636.1:n.*4202C=
ENST00000681298.1:n.4698C=
ENST00000681454.1:c.*5829C=	ENSP00000505763.1:n.*5829C=
XM_011518717.1:c.5894C=	XP_011517019.1:p.Ser1965=
XM_011518717.2:c.5870C=	XP_011517019.2:p.Ser1957=