Canonical Allele Identifier: CA1884231137

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497151C= , CM000671.2:g.136497151C=	GRCh38
NC_000009.11:g.139391603C= , CM000671.1:g.139391603C=	GRCh37
NC_000009.10:g.138511424C=	NCBI36
NG_007458.1:g.53636G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6588G= MANE Select	ENSP00000498587.1:p.Met2196=
ENST00000679595.1:c.*1628G=	ENSP00000506241.1:n.*1628G=
ENST00000679969.1:n.3184G=
ENST00000680003.1:n.2920G=
ENST00000680133.1:c.6474G=	ENSP00000505319.1:p.Met2158=
ENST00000680218.1:c.6468G=	ENSP00000505339.1:p.Met2156=
ENST00000680668.1:c.6474G=	ENSP00000506336.1:p.Met2158=
ENST00000680778.1:c.4185G=	ENSP00000506033.1:p.Met1395=
ENST00000680924.1:c.*3988G=	ENSP00000506031.1:n.*3988G=
ENST00000681135.1:c.*4197G=	ENSP00000506636.1:n.*4197G=
ENST00000681298.1:n.4693G=
ENST00000681454.1:c.*5824G=	ENSP00000505763.1:n.*5824G=
ENST00000277541.6:c.6588G=	ENSP00000277541.6:p.Met2196=
NM_017617.3:c.6588G=	NP_060087.3:p.Met2196=
XM_011518717.1:c.5889G=	XP_011517019.1:p.Met1963=
NM_017617.5:c.6588G= MANE Select	NP_060087.3:p.Met2196=
XM_011518717.2:c.5865G=	XP_011517019.2:p.Met1955=