Canonical Allele Identifier: CA201644088

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2793773
• ClinVar RCV Id: RCV003749205
• dbSNP Id: rs968015762
• MyVariant Identifiers: chr9:g.139399484C>T (hg19) ; chr9:g.136505032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505032C>T , CM000671.2:g.136505032C>T	GRCh38
NC_000009.11:g.139399484C>T , CM000671.1:g.139399484C>T	GRCh37
NC_000009.10:g.138519305C>T	NCBI36
NG_007458.1:g.45755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2466G>A
ENST00000651671.1:c.4659G>A MANE Select	ENSP00000498587.1:p.Glu1553=
ENST00000679595.1:c.4659G>A	ENSP00000506241.1:p.Glu1553=
ENST00000680133.1:c.4545G>A	ENSP00000505319.1:p.Glu1515=
ENST00000680218.1:c.4539G>A	ENSP00000505339.1:p.Glu1513=
ENST00000680668.1:c.4545G>A	ENSP00000506336.1:p.Glu1515=
ENST00000680778.1:c.2256G>A	ENSP00000506033.1:p.Glu752=
ENST00000680924.1:c.*2059G>A	ENSP00000506031.1:n.*2059G>A
ENST00000681135.1:c.*2268G>A	ENSP00000506636.1:n.*2268G>A
ENST00000681298.1:n.1472G>A
ENST00000681454.1:c.*3895G>A	ENSP00000505763.1:n.*3895G>A
ENST00000277541.6:c.4659G>A	ENSP00000277541.6:p.Glu1553=
NM_017617.3:c.4659G>A	NP_060087.3:p.Glu1553=
XM_011518717.1:c.3960G>A	XP_011517019.1:p.Glu1320=
NM_017617.5:c.4659G>A MANE Select	NP_060087.3:p.Glu1553=
XM_011518717.2:c.3936G>A	XP_011517019.2:p.Glu1312=