Canonical Allele Identifier: CA1884231165

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497169C= , CM000671.2:g.136497169C=	GRCh38
NC_000009.11:g.139391621C= , CM000671.1:g.139391621C=	GRCh37
NC_000009.10:g.138511442C=	NCBI36
NG_007458.1:g.53618G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6570G= MANE Select	ENSP00000498587.1:p.Leu2190=
ENST00000679595.1:c.*1610G=	ENSP00000506241.1:n.*1610G=
ENST00000679969.1:n.3166G=
ENST00000680003.1:n.2902G=
ENST00000680133.1:c.6456G=	ENSP00000505319.1:p.Leu2152=
ENST00000680218.1:c.6450G=	ENSP00000505339.1:p.Leu2150=
ENST00000680668.1:c.6456G=	ENSP00000506336.1:p.Leu2152=
ENST00000680778.1:c.4167G=	ENSP00000506033.1:p.Leu1389=
ENST00000680924.1:c.*3970G=	ENSP00000506031.1:n.*3970G=
ENST00000681135.1:c.*4179G=	ENSP00000506636.1:n.*4179G=
ENST00000681298.1:n.4675G=
ENST00000681454.1:c.*5806G=	ENSP00000505763.1:n.*5806G=
ENST00000277541.6:c.6570G=	ENSP00000277541.6:p.Leu2190=
NM_017617.3:c.6570G=	NP_060087.3:p.Leu2190=
XM_011518717.1:c.5871G=	XP_011517019.1:p.Leu1957=
NM_017617.5:c.6570G= MANE Select	NP_060087.3:p.Leu2190=
XM_011518717.2:c.5847G=	XP_011517019.2:p.Leu1949=