Canonical Allele Identifier: CA375634033

Gene: NOTCH1

Linked Data

• COSMIC: COSM99611 ; COSM99612
• MyVariant Identifiers: chr9:g.139393418A>T (hg19) ; chr9:g.136498966A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498966A>T , CM000671.2:g.136498966A>T	GRCh38
NC_000009.11:g.139393418A>T , CM000671.1:g.139393418A>T	GRCh37
NC_000009.10:g.138513239A>T	NCBI36
NG_007458.1:g.51821T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6113T>A MANE Select	ENSP00000498587.1:p.Val2038Glu
ENST00000679595.1:c.*1153T>A	ENSP00000506241.1:n.*1153T>A
ENST00000679969.1:n.2709T>A
ENST00000680003.1:n.2445T>A
ENST00000680133.1:c.5999T>A	ENSP00000505319.1:p.Val2000Glu
ENST00000680218.1:c.5993T>A	ENSP00000505339.1:p.Val1998Glu
ENST00000680668.1:c.5999T>A	ENSP00000506336.1:p.Val2000Glu
ENST00000680778.1:c.3710T>A	ENSP00000506033.1:p.Val1237Glu
ENST00000680924.1:c.*3513T>A	ENSP00000506031.1:n.*3513T>A
ENST00000681135.1:c.*3722T>A	ENSP00000506636.1:n.*3722T>A
ENST00000681298.1:n.4218T>A
ENST00000681454.1:c.*5349T>A	ENSP00000505763.1:n.*5349T>A
ENST00000277541.6:c.6113T>A	ENSP00000277541.6:p.Val2038Glu
NM_017617.3:c.6113T>A	NP_060087.3:p.Val2038Glu
XM_011518717.1:c.5414T>A	XP_011517019.1:p.Val1805Glu
NM_017617.5:c.6113T>A MANE Select	NP_060087.3:p.Val2038Glu
XM_011518717.2:c.5390T>A	XP_011517019.2:p.Val1797Glu