Canonical Allele Identifier: CA1884231149

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497157G= , CM000671.2:g.136497157G=	GRCh38
NC_000009.11:g.139391609G= , CM000671.1:g.139391609G=	GRCh37
NC_000009.10:g.138511430G=	NCBI36
NG_007458.1:g.53630C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6582C= MANE Select	ENSP00000498587.1:p.Ser2194=
ENST00000679595.1:c.*1622C=	ENSP00000506241.1:n.*1622C=
ENST00000679969.1:n.3178C=
ENST00000680003.1:n.2914C=
ENST00000680133.1:c.6468C=	ENSP00000505319.1:p.Ser2156=
ENST00000680218.1:c.6462C=	ENSP00000505339.1:p.Ser2154=
ENST00000680668.1:c.6468C=	ENSP00000506336.1:p.Ser2156=
ENST00000680778.1:c.4179C=	ENSP00000506033.1:p.Ser1393=
ENST00000680924.1:c.*3982C=	ENSP00000506031.1:n.*3982C=
ENST00000681135.1:c.*4191C=	ENSP00000506636.1:n.*4191C=
ENST00000681298.1:n.4687C=
ENST00000681454.1:c.*5818C=	ENSP00000505763.1:n.*5818C=
ENST00000277541.6:c.6582C=	ENSP00000277541.6:p.Ser2194=
NM_017617.3:c.6582C=	NP_060087.3:p.Ser2194=
XM_011518717.1:c.5883C=	XP_011517019.1:p.Ser1961=
NM_017617.5:c.6582C= MANE Select	NP_060087.3:p.Ser2194=
XM_011518717.2:c.5859C=	XP_011517019.2:p.Ser1953=