Canonical Allele Identifier: CA1884231175

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497177C= , CM000671.2:g.136497177C=	GRCh38
NC_000009.11:g.139391629C= , CM000671.1:g.139391629C=	GRCh37
NC_000009.10:g.138511450C=	NCBI36
NG_007458.1:g.53610G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6562G= MANE Select	ENSP00000498587.1:p.Gly2188=
ENST00000679595.1:c.*1602G=	ENSP00000506241.1:n.*1602G=
ENST00000679969.1:n.3158G=
ENST00000680003.1:n.2894G=
ENST00000680133.1:c.6448G=	ENSP00000505319.1:p.Gly2150=
ENST00000680218.1:c.6442G=	ENSP00000505339.1:p.Gly2148=
ENST00000680668.1:c.6448G=	ENSP00000506336.1:p.Gly2150=
ENST00000680778.1:c.4159G=	ENSP00000506033.1:p.Gly1387=
ENST00000680924.1:c.*3962G=	ENSP00000506031.1:n.*3962G=
ENST00000681135.1:c.*4171G=	ENSP00000506636.1:n.*4171G=
ENST00000681298.1:n.4667G=
ENST00000681454.1:c.*5798G=	ENSP00000505763.1:n.*5798G=
ENST00000277541.6:c.6562G=	ENSP00000277541.6:p.Gly2188=
NM_017617.3:c.6562G=	NP_060087.3:p.Gly2188=
XM_011518717.1:c.5863G=	XP_011517019.1:p.Gly1955=
NM_017617.5:c.6562G= MANE Select	NP_060087.3:p.Gly2188=
XM_011518717.2:c.5839G=	XP_011517019.2:p.Gly1947=