Canonical Allele Identifier: CA375647185

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505410A>T , CM000671.2:g.136505410A>T	GRCh38
NC_000009.11:g.139399862A>T , CM000671.1:g.139399862A>T	GRCh37
NC_000009.10:g.138519683A>T	NCBI36
NG_007458.1:g.45377T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2293T>A
ENST00000651671.1:c.4486T>A MANE Select	ENSP00000498587.1:p.Cys1496Ser
ENST00000679595.1:c.4486T>A	ENSP00000506241.1:p.Cys1496Ser
ENST00000680133.1:c.4372T>A	ENSP00000505319.1:p.Cys1458Ser
ENST00000680218.1:c.4366T>A	ENSP00000505339.1:p.Cys1456Ser
ENST00000680668.1:c.4372T>A	ENSP00000506336.1:p.Cys1458Ser
ENST00000680778.1:c.2083T>A	ENSP00000506033.1:p.Cys695Ser
ENST00000680924.1:c.*1886T>A	ENSP00000506031.1:n.*1886T>A
ENST00000681135.1:c.*2095T>A	ENSP00000506636.1:n.*2095T>A
ENST00000681298.1:n.1299T>A
ENST00000681454.1:c.*3722T>A	ENSP00000505763.1:n.*3722T>A
ENST00000277541.6:c.4486T>A	ENSP00000277541.6:p.Cys1496Ser
NM_017617.3:c.4486T>A	NP_060087.3:p.Cys1496Ser
XM_011518717.1:c.3787T>A	XP_011517019.1:p.Cys1263Ser
NM_017617.5:c.4486T>A MANE Select	NP_060087.3:p.Cys1496Ser
XM_011518717.2:c.3763T>A	XP_011517019.2:p.Cys1255Ser