Canonical Allele Identifier: CA375631803

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391773A>T (hg19) ; chr9:g.136497321A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497321A>T , CM000671.2:g.136497321A>T	GRCh38
NC_000009.11:g.139391773A>T , CM000671.1:g.139391773A>T	GRCh37
NC_000009.10:g.138511594A>T	NCBI36
NG_007458.1:g.53466T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6418T>A MANE Select	ENSP00000498587.1:p.Cys2140Ser
ENST00000679595.1:c.*1458T>A	ENSP00000506241.1:n.*1458T>A
ENST00000679969.1:n.3014T>A
ENST00000680003.1:n.2750T>A
ENST00000680133.1:c.6304T>A	ENSP00000505319.1:p.Cys2102Ser
ENST00000680218.1:c.6298T>A	ENSP00000505339.1:p.Cys2100Ser
ENST00000680668.1:c.6304T>A	ENSP00000506336.1:p.Cys2102Ser
ENST00000680778.1:c.4015T>A	ENSP00000506033.1:p.Cys1339Ser
ENST00000680924.1:c.*3818T>A	ENSP00000506031.1:n.*3818T>A
ENST00000681135.1:c.*4027T>A	ENSP00000506636.1:n.*4027T>A
ENST00000681298.1:n.4523T>A
ENST00000681454.1:c.*5654T>A	ENSP00000505763.1:n.*5654T>A
ENST00000277541.6:c.6418T>A	ENSP00000277541.6:p.Cys2140Ser
NM_017617.3:c.6418T>A	NP_060087.3:p.Cys2140Ser
XM_011518717.1:c.5719T>A	XP_011517019.1:p.Cys1907Ser
NM_017617.5:c.6418T>A MANE Select	NP_060087.3:p.Cys2140Ser
XM_011518717.2:c.5695T>A	XP_011517019.2:p.Cys1899Ser