Canonical Allele Identifier: CA1884231159

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497166C= , CM000671.2:g.136497166C=	GRCh38
NC_000009.11:g.139391618C= , CM000671.1:g.139391618C=	GRCh37
NC_000009.10:g.138511439C=	NCBI36
NG_007458.1:g.53621G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6573G= MANE Select	ENSP00000498587.1:p.Leu2191=
ENST00000679595.1:c.*1613G=	ENSP00000506241.1:n.*1613G=
ENST00000679969.1:n.3169G=
ENST00000680003.1:n.2905G=
ENST00000680133.1:c.6459G=	ENSP00000505319.1:p.Leu2153=
ENST00000680218.1:c.6453G=	ENSP00000505339.1:p.Leu2151=
ENST00000680668.1:c.6459G=	ENSP00000506336.1:p.Leu2153=
ENST00000680778.1:c.4170G=	ENSP00000506033.1:p.Leu1390=
ENST00000680924.1:c.*3973G=	ENSP00000506031.1:n.*3973G=
ENST00000681135.1:c.*4182G=	ENSP00000506636.1:n.*4182G=
ENST00000681298.1:n.4678G=
ENST00000681454.1:c.*5809G=	ENSP00000505763.1:n.*5809G=
ENST00000277541.6:c.6573G=	ENSP00000277541.6:p.Leu2191=
NM_017617.3:c.6573G=	NP_060087.3:p.Leu2191=
XM_011518717.1:c.5874G=	XP_011517019.1:p.Leu1958=
NM_017617.5:c.6573G= MANE Select	NP_060087.3:p.Leu2191=
XM_011518717.2:c.5850G=	XP_011517019.2:p.Leu1950=