Canonical Allele Identifier: CA2580903167

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504868C= , CM000671.2:g.136504868C=	GRCh38
NC_000009.11:g.139399320C= , CM000671.1:g.139399320C=	GRCh37
NC_000009.10:g.138519141C=	NCBI36
NG_007458.1:g.45919G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2630G=
ENST00000651671.1:c.4823G= MANE Select	ENSP00000498587.1:p.Arg1608=
ENST00000679595.1:c.4823G=	ENSP00000506241.1:p.Arg1608=
ENST00000680133.1:c.4709G=	ENSP00000505319.1:p.Arg1570=
ENST00000680218.1:c.4703G=	ENSP00000505339.1:p.Arg1568=
ENST00000680668.1:c.4709G=	ENSP00000506336.1:p.Arg1570=
ENST00000680778.1:c.2420G=	ENSP00000506033.1:p.Arg807=
ENST00000680924.1:c.*2223G=	ENSP00000506031.1:n.*2223G=
ENST00000681135.1:c.*2432G=	ENSP00000506636.1:n.*2432G=
ENST00000681298.1:n.1636G=
ENST00000681454.1:c.*4059G=	ENSP00000505763.1:n.*4059G=
ENST00000277541.6:c.4823G=	ENSP00000277541.6:p.Arg1608=
NM_017617.3:c.4823G=	NP_060087.3:p.Arg1608=
XM_011518717.1:c.4124G=	XP_011517019.1:p.Arg1375=
NM_017617.5:c.4823G= MANE Select	NP_060087.3:p.Arg1608=
XM_011518717.2:c.4100G=	XP_011517019.2:p.Arg1367=