Canonical Allele Identifier: CA1884231263

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497269T= , CM000671.2:g.136497269T=	GRCh38
NC_000009.11:g.139391721T= , CM000671.1:g.139391721T=	GRCh37
NC_000009.10:g.138511542T=	NCBI36
NG_007458.1:g.53518A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6470A= MANE Select	ENSP00000498587.1:p.Lys2157=
ENST00000679595.1:c.*1510A=	ENSP00000506241.1:n.*1510A=
ENST00000679969.1:n.3066A=
ENST00000680003.1:n.2802A=
ENST00000680133.1:c.6356A=	ENSP00000505319.1:p.Lys2119=
ENST00000680218.1:c.6350A=	ENSP00000505339.1:p.Lys2117=
ENST00000680668.1:c.6356A=	ENSP00000506336.1:p.Lys2119=
ENST00000680778.1:c.4067A=	ENSP00000506033.1:p.Lys1356=
ENST00000680924.1:c.*3870A=	ENSP00000506031.1:n.*3870A=
ENST00000681135.1:c.*4079A=	ENSP00000506636.1:n.*4079A=
ENST00000681298.1:n.4575A=
ENST00000681454.1:c.*5706A=	ENSP00000505763.1:n.*5706A=
ENST00000277541.6:c.6470A=	ENSP00000277541.6:p.Lys2157=
NM_017617.3:c.6470A=	NP_060087.3:p.Lys2157=
XM_011518717.1:c.5771A=	XP_011517019.1:p.Lys1924=
NM_017617.5:c.6470A= MANE Select	NP_060087.3:p.Lys2157=
XM_011518717.2:c.5747A=	XP_011517019.2:p.Lys1916=