Canonical Allele Identifier: CA1884231386

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497373C= , CM000671.2:g.136497373C=	GRCh38
NC_000009.11:g.139391825C= , CM000671.1:g.139391825C=	GRCh37
NC_000009.10:g.138511646C=	NCBI36
NG_007458.1:g.53414G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6366G= MANE Select	ENSP00000498587.1:p.Pro2122=
ENST00000679595.1:c.*1406G=	ENSP00000506241.1:n.*1406G=
ENST00000679969.1:n.2962G=
ENST00000680003.1:n.2698G=
ENST00000680133.1:c.6252G=	ENSP00000505319.1:p.Pro2084=
ENST00000680218.1:c.6246G=	ENSP00000505339.1:p.Pro2082=
ENST00000680668.1:c.6252G=	ENSP00000506336.1:p.Pro2084=
ENST00000680778.1:c.3963G=	ENSP00000506033.1:p.Pro1321=
ENST00000680924.1:c.*3766G=	ENSP00000506031.1:n.*3766G=
ENST00000681135.1:c.*3975G=	ENSP00000506636.1:n.*3975G=
ENST00000681298.1:n.4471G=
ENST00000681454.1:c.*5602G=	ENSP00000505763.1:n.*5602G=
ENST00000277541.6:c.6366G=	ENSP00000277541.6:p.Pro2122=
NM_017617.3:c.6366G=	NP_060087.3:p.Pro2122=
XM_011518717.1:c.5667G=	XP_011517019.1:p.Pro1889=
NM_017617.5:c.6366G= MANE Select	NP_060087.3:p.Pro2122=
XM_011518717.2:c.5643G=	XP_011517019.2:p.Pro1881=