Canonical Allele Identifier: CA1884231150

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497161C= , CM000671.2:g.136497161C=	GRCh38
NC_000009.11:g.139391613C= , CM000671.1:g.139391613C=	GRCh37
NC_000009.10:g.138511434C=	NCBI36
NG_007458.1:g.53626G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6578G= MANE Select	ENSP00000498587.1:p.Ser2193=
ENST00000679595.1:c.*1618G=	ENSP00000506241.1:n.*1618G=
ENST00000679969.1:n.3174G=
ENST00000680003.1:n.2910G=
ENST00000680133.1:c.6464G=	ENSP00000505319.1:p.Ser2155=
ENST00000680218.1:c.6458G=	ENSP00000505339.1:p.Ser2153=
ENST00000680668.1:c.6464G=	ENSP00000506336.1:p.Ser2155=
ENST00000680778.1:c.4175G=	ENSP00000506033.1:p.Ser1392=
ENST00000680924.1:c.*3978G=	ENSP00000506031.1:n.*3978G=
ENST00000681135.1:c.*4187G=	ENSP00000506636.1:n.*4187G=
ENST00000681298.1:n.4683G=
ENST00000681454.1:c.*5814G=	ENSP00000505763.1:n.*5814G=
ENST00000277541.6:c.6578G=	ENSP00000277541.6:p.Ser2193=
NM_017617.3:c.6578G=	NP_060087.3:p.Ser2193=
XM_011518717.1:c.5879G=	XP_011517019.1:p.Ser1960=
NM_017617.5:c.6578G= MANE Select	NP_060087.3:p.Ser2193=
XM_011518717.2:c.5855G=	XP_011517019.2:p.Ser1952=