Canonical Allele Identifier: CA467742265

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336178
• MyVariant Identifiers: chr9:g.139399244A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504792A>T , CM000671.2:g.136504792A>T	GRCh38
NC_000009.11:g.139399244A>T , CM000671.1:g.139399244A>T	GRCh37
NC_000009.10:g.138519065A>T	NCBI36
NG_007458.1:g.45995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2706T>A
ENST00000651671.1:c.4899T>A MANE Select	ENSP00000498587.1:p.Arg1633=
ENST00000679595.1:c.4899T>A	ENSP00000506241.1:p.Arg1633=
ENST00000680133.1:c.4785T>A	ENSP00000505319.1:p.Arg1595=
ENST00000680218.1:c.4779T>A	ENSP00000505339.1:p.Arg1593=
ENST00000680668.1:c.4785T>A	ENSP00000506336.1:p.Arg1595=
ENST00000680778.1:c.2496T>A	ENSP00000506033.1:p.Arg832=
ENST00000680924.1:c.*2299T>A	ENSP00000506031.1:n.*2299T>A
ENST00000681135.1:c.*2508T>A	ENSP00000506636.1:n.*2508T>A
ENST00000681298.1:n.1712T>A
ENST00000681454.1:c.*4135T>A	ENSP00000505763.1:n.*4135T>A
ENST00000277541.6:c.4899T>A	ENSP00000277541.6:p.Arg1633=
ENST00000494783.1:n.54T>A
NM_017617.3:c.4899T>A	NP_060087.3:p.Arg1633=
XM_011518717.1:c.4200T>A	XP_011517019.1:p.Arg1400=
NM_017617.5:c.4899T>A MANE Select	NP_060087.3:p.Arg1633=
XM_011518717.2:c.4176T>A	XP_011517019.2:p.Arg1392=