Canonical Allele Identifier: CA467832232

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317944
• COSMIC: COSM3395674 ; COSM3395675
• MyVariant Identifiers: chr9:g.139391620G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497168G>A , CM000671.2:g.136497168G>A	GRCh38
NC_000009.11:g.139391620G>A , CM000671.1:g.139391620G>A	GRCh37
NC_000009.10:g.138511441G>A	NCBI36
NG_007458.1:g.53619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6571C>T MANE Select	ENSP00000498587.1:p.Leu2191=
ENST00000679595.1:c.*1611C>T	ENSP00000506241.1:n.*1611C>T
ENST00000679969.1:n.3167C>T
ENST00000680003.1:n.2903C>T
ENST00000680133.1:c.6457C>T	ENSP00000505319.1:p.Leu2153=
ENST00000680218.1:c.6451C>T	ENSP00000505339.1:p.Leu2151=
ENST00000680668.1:c.6457C>T	ENSP00000506336.1:p.Leu2153=
ENST00000680778.1:c.4168C>T	ENSP00000506033.1:p.Leu1390=
ENST00000680924.1:c.*3971C>T	ENSP00000506031.1:n.*3971C>T
ENST00000681135.1:c.*4180C>T	ENSP00000506636.1:n.*4180C>T
ENST00000681298.1:n.4676C>T
ENST00000681454.1:c.*5807C>T	ENSP00000505763.1:n.*5807C>T
ENST00000277541.6:c.6571C>T	ENSP00000277541.6:p.Leu2191=
NM_017617.3:c.6571C>T	NP_060087.3:p.Leu2191=
XM_011518717.1:c.5872C>T	XP_011517019.1:p.Leu1958=
NM_017617.5:c.6571C>T MANE Select	NP_060087.3:p.Leu2191=
XM_011518717.2:c.5848C>T	XP_011517019.2:p.Leu1950=