Canonical Allele Identifier: CA375644522

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336242
• MyVariant Identifiers: chr9:g.139399257T>G (hg19) ; chr9:g.136504805T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504805T>G , CM000671.2:g.136504805T>G	GRCh38
NC_000009.11:g.139399257T>G , CM000671.1:g.139399257T>G	GRCh37
NC_000009.10:g.138519078T>G	NCBI36
NG_007458.1:g.45982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2693A>C
ENST00000651671.1:c.4886A>C MANE Select	ENSP00000498587.1:p.His1629Pro
ENST00000679595.1:c.4886A>C	ENSP00000506241.1:p.His1629Pro
ENST00000680133.1:c.4772A>C	ENSP00000505319.1:p.His1591Pro
ENST00000680218.1:c.4766A>C	ENSP00000505339.1:p.His1589Pro
ENST00000680668.1:c.4772A>C	ENSP00000506336.1:p.His1591Pro
ENST00000680778.1:c.2483A>C	ENSP00000506033.1:p.His828Pro
ENST00000680924.1:c.*2286A>C	ENSP00000506031.1:n.*2286A>C
ENST00000681135.1:c.*2495A>C	ENSP00000506636.1:n.*2495A>C
ENST00000681298.1:n.1699A>C
ENST00000681454.1:c.*4122A>C	ENSP00000505763.1:n.*4122A>C
ENST00000277541.6:c.4886A>C	ENSP00000277541.6:p.His1629Pro
ENST00000494783.1:n.41A>C
NM_017617.3:c.4886A>C	NP_060087.3:p.His1629Pro
XM_011518717.1:c.4187A>C	XP_011517019.1:p.His1396Pro
NM_017617.5:c.4886A>C MANE Select	NP_060087.3:p.His1629Pro
XM_011518717.2:c.4163A>C	XP_011517019.2:p.His1388Pro