Canonical Allele Identifier: CA1884232427

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498907T= , CM000671.2:g.136498907T=	GRCh38
NC_000009.11:g.139393359T= , CM000671.1:g.139393359T=	GRCh37
NC_000009.10:g.138513180T=	NCBI36
NG_007458.1:g.51880A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6172A= MANE Select	ENSP00000498587.1:p.Asn2058=
ENST00000679595.1:c.*1212A=	ENSP00000506241.1:n.*1212A=
ENST00000679969.1:n.2768A=
ENST00000680003.1:n.2504A=
ENST00000680133.1:c.6058A=	ENSP00000505319.1:p.Asn2020=
ENST00000680218.1:c.6052A=	ENSP00000505339.1:p.Asn2018=
ENST00000680668.1:c.6058A=	ENSP00000506336.1:p.Asn2020=
ENST00000680778.1:c.3769A=	ENSP00000506033.1:p.Asn1257=
ENST00000680924.1:c.*3572A=	ENSP00000506031.1:n.*3572A=
ENST00000681135.1:c.*3781A=	ENSP00000506636.1:n.*3781A=
ENST00000681298.1:n.4277A=
ENST00000681454.1:c.*5408A=	ENSP00000505763.1:n.*5408A=
ENST00000277541.6:c.6172A=	ENSP00000277541.6:p.Asn2058=
NM_017617.3:c.6172A=	NP_060087.3:p.Asn2058=
XM_011518717.1:c.5473A=	XP_011517019.1:p.Asn1825=
NM_017617.5:c.6172A= MANE Select	NP_060087.3:p.Asn2058=
XM_011518717.2:c.5449A=	XP_011517019.2:p.Asn1817=