Canonical Allele Identifier: CA3165599769

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504916A= , CM000671.2:g.136504916A=	GRCh38
NC_000009.11:g.139399368A= , CM000671.1:g.139399368A=	GRCh37
NC_000009.10:g.138519189A=	NCBI36
NG_007458.1:g.45871T=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.4775T= MANE Select	NP_060087.3:p.Phe1592=
ENST00000651671.1:c.4775T= MANE Select	ENSP00000498587.1:p.Phe1592=
NM_017617.3:c.4775T=	NP_060087.3:p.Phe1592=
ENST00000277541.6:c.4775T=	ENSP00000277541.6:p.Phe1592=
ENST00000645828.1:n.2582T=
ENST00000679595.1:c.4775T=	ENSP00000506241.1:p.Phe1592=
ENST00000680133.1:c.4661T=	ENSP00000505319.1:p.Phe1554=
ENST00000680218.1:c.4655T=	ENSP00000505339.1:p.Phe1552=
ENST00000680668.1:c.4661T=	ENSP00000506336.1:p.Phe1554=
ENST00000680778.1:c.2372T=	ENSP00000506033.1:p.Phe791=
ENST00000680924.1:c.*2175T=	ENSP00000506031.1:n.*2175T=
ENST00000681135.1:c.*2384T=	ENSP00000506636.1:n.*2384T=
ENST00000681298.1:n.1588T=
ENST00000681454.1:c.*4011T=	ENSP00000505763.1:n.*4011T=
XM_011518717.1:c.4076T=	XP_011517019.1:p.Phe1359=
XM_011518717.2:c.4052T=	XP_011517019.2:p.Phe1351=