Canonical Allele Identifier: CA1884231217

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497229G= , CM000671.2:g.136497229G=	GRCh38
NC_000009.11:g.139391681G= , CM000671.1:g.139391681G=	GRCh37
NC_000009.10:g.138511502G=	NCBI36
NG_007458.1:g.53558C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6510C= MANE Select	ENSP00000498587.1:p.Ser2170=
ENST00000679595.1:c.*1550C=	ENSP00000506241.1:n.*1550C=
ENST00000679969.1:n.3106C=
ENST00000680003.1:n.2842C=
ENST00000680133.1:c.6396C=	ENSP00000505319.1:p.Ser2132=
ENST00000680218.1:c.6390C=	ENSP00000505339.1:p.Ser2130=
ENST00000680668.1:c.6396C=	ENSP00000506336.1:p.Ser2132=
ENST00000680778.1:c.4107C=	ENSP00000506033.1:p.Ser1369=
ENST00000680924.1:c.*3910C=	ENSP00000506031.1:n.*3910C=
ENST00000681135.1:c.*4119C=	ENSP00000506636.1:n.*4119C=
ENST00000681298.1:n.4615C=
ENST00000681454.1:c.*5746C=	ENSP00000505763.1:n.*5746C=
ENST00000277541.6:c.6510C=	ENSP00000277541.6:p.Ser2170=
NM_017617.3:c.6510C=	NP_060087.3:p.Ser2170=
XM_011518717.1:c.5811C=	XP_011517019.1:p.Ser1937=
NM_017617.5:c.6510C= MANE Select	NP_060087.3:p.Ser2170=
XM_011518717.2:c.5787C=	XP_011517019.2:p.Ser1929=