Canonical Allele Identifier: CA375633829

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2442752
• ClinVar RCV Id: RCV003149524 ; RCV004246165
• dbSNP Id: rs1842956333
• gnomAD v4: 9-136498928-C-T
• COSMIC: COSM6304355 ; COSM6304356
• MyVariant Identifiers: chr9:g.139393380C>T (hg19) ; chr9:g.136498928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498928C>T , CM000671.2:g.136498928C>T	GRCh38
NC_000009.11:g.139393380C>T , CM000671.1:g.139393380C>T	GRCh37
NC_000009.10:g.138513201C>T	NCBI36
NG_007458.1:g.51859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6151G>A MANE Select	ENSP00000498587.1:p.Gly2051Arg
ENST00000679595.1:c.*1191G>A	ENSP00000506241.1:n.*1191G>A
ENST00000679969.1:n.2747G>A
ENST00000680003.1:n.2483G>A
ENST00000680133.1:c.6037G>A	ENSP00000505319.1:p.Gly2013Arg
ENST00000680218.1:c.6031G>A	ENSP00000505339.1:p.Gly2011Arg
ENST00000680668.1:c.6037G>A	ENSP00000506336.1:p.Gly2013Arg
ENST00000680778.1:c.3748G>A	ENSP00000506033.1:p.Gly1250Arg
ENST00000680924.1:c.*3551G>A	ENSP00000506031.1:n.*3551G>A
ENST00000681135.1:c.*3760G>A	ENSP00000506636.1:n.*3760G>A
ENST00000681298.1:n.4256G>A
ENST00000681454.1:c.*5387G>A	ENSP00000505763.1:n.*5387G>A
ENST00000277541.6:c.6151G>A	ENSP00000277541.6:p.Gly2051Arg
NM_017617.3:c.6151G>A	NP_060087.3:p.Gly2051Arg
XM_011518717.1:c.5452G>A	XP_011517019.1:p.Gly1818Arg
NM_017617.5:c.6151G>A MANE Select	NP_060087.3:p.Gly2051Arg
XM_011518717.2:c.5428G>A	XP_011517019.2:p.Gly1810Arg