Canonical Allele Identifier: CA375645755

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399492T>A (hg19) ; chr9:g.136505040T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505040T>A , CM000671.2:g.136505040T>A	GRCh38
NC_000009.11:g.139399492T>A , CM000671.1:g.139399492T>A	GRCh37
NC_000009.10:g.138519313T>A	NCBI36
NG_007458.1:g.45747A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2458A>T
ENST00000651671.1:c.4651A>T MANE Select	ENSP00000498587.1:p.Ser1551Cys
ENST00000679595.1:c.4651A>T	ENSP00000506241.1:p.Ser1551Cys
ENST00000680133.1:c.4537A>T	ENSP00000505319.1:p.Ser1513Cys
ENST00000680218.1:c.4531A>T	ENSP00000505339.1:p.Ser1511Cys
ENST00000680668.1:c.4537A>T	ENSP00000506336.1:p.Ser1513Cys
ENST00000680778.1:c.2248A>T	ENSP00000506033.1:p.Ser750Cys
ENST00000680924.1:c.*2051A>T	ENSP00000506031.1:n.*2051A>T
ENST00000681135.1:c.*2260A>T	ENSP00000506636.1:n.*2260A>T
ENST00000681298.1:n.1464A>T
ENST00000681454.1:c.*3887A>T	ENSP00000505763.1:n.*3887A>T
ENST00000277541.6:c.4651A>T	ENSP00000277541.6:p.Ser1551Cys
NM_017617.3:c.4651A>T	NP_060087.3:p.Ser1551Cys
XM_011518717.1:c.3952A>T	XP_011517019.1:p.Ser1318Cys
NM_017617.5:c.4651A>T MANE Select	NP_060087.3:p.Ser1551Cys
XM_011518717.2:c.3928A>T	XP_011517019.2:p.Ser1310Cys