Canonical Allele Identifier: CA375633940

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321684
• gnomAD v4: 9-136498946-C-T
• COSMIC: COSM327176 ; COSM327177
• MyVariant Identifiers: chr9:g.139393398C>T (hg19) ; chr9:g.136498946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498946C>T , CM000671.2:g.136498946C>T	GRCh38
NC_000009.11:g.139393398C>T , CM000671.1:g.139393398C>T	GRCh37
NC_000009.10:g.138513219C>T	NCBI36
NG_007458.1:g.51841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6133G>A MANE Select	ENSP00000498587.1:p.Val2045Ile
ENST00000679595.1:c.*1173G>A	ENSP00000506241.1:n.*1173G>A
ENST00000679969.1:n.2729G>A
ENST00000680003.1:n.2465G>A
ENST00000680133.1:c.6019G>A	ENSP00000505319.1:p.Val2007Ile
ENST00000680218.1:c.6013G>A	ENSP00000505339.1:p.Val2005Ile
ENST00000680668.1:c.6019G>A	ENSP00000506336.1:p.Val2007Ile
ENST00000680778.1:c.3730G>A	ENSP00000506033.1:p.Val1244Ile
ENST00000680924.1:c.*3533G>A	ENSP00000506031.1:n.*3533G>A
ENST00000681135.1:c.*3742G>A	ENSP00000506636.1:n.*3742G>A
ENST00000681298.1:n.4238G>A
ENST00000681454.1:c.*5369G>A	ENSP00000505763.1:n.*5369G>A
ENST00000277541.6:c.6133G>A	ENSP00000277541.6:p.Val2045Ile
NM_017617.3:c.6133G>A	NP_060087.3:p.Val2045Ile
XM_011518717.1:c.5434G>A	XP_011517019.1:p.Val1812Ile
NM_017617.5:c.6133G>A MANE Select	NP_060087.3:p.Val2045Ile
XM_011518717.2:c.5410G>A	XP_011517019.2:p.Val1804Ile