Canonical Allele Identifier: CA3165601236

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517850C= , CM000671.2:g.136517850C=	GRCh38
NC_000009.11:g.139412302C= , CM000671.1:g.139412302C=	GRCh37
NC_000009.10:g.138532123C=	NCBI36
NG_007458.1:g.32937G=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.1343G= MANE Select	NP_060087.3:p.Arg448=
ENST00000651671.1:c.1343G= MANE Select	ENSP00000498587.1:p.Arg448=
NM_017617.3:c.1343G=	NP_060087.3:p.Arg448=
ENST00000277541.6:c.1343G=	ENSP00000277541.6:p.Arg448=
ENST00000679595.1:c.1343G=	ENSP00000506241.1:p.Arg448=
ENST00000680133.1:c.1343G=	ENSP00000505319.1:p.Arg448=
ENST00000680218.1:c.1343G=	ENSP00000505339.1:p.Arg448=
ENST00000680668.1:c.1343G=	ENSP00000506336.1:p.Arg448=
ENST00000680924.1:c.1343G=	ENSP00000506031.1:p.Arg448=
ENST00000681135.1:c.1343G=	ENSP00000506636.1:p.Arg448=
ENST00000681454.1:c.*579G=	ENSP00000505763.1:n.*579G=
XM_011518717.1:c.644G=	XP_011517019.1:p.Arg215=
XM_011518717.2:c.620G=	XP_011517019.2:p.Arg207=