Canonical Allele Identifier: CA375631648

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318483
• MyVariant Identifiers: chr9:g.139391733A>T (hg19) ; chr9:g.136497281A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497281A>T , CM000671.2:g.136497281A>T	GRCh38
NC_000009.11:g.139391733A>T , CM000671.1:g.139391733A>T	GRCh37
NC_000009.10:g.138511554A>T	NCBI36
NG_007458.1:g.53506T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6458T>A MANE Select	ENSP00000498587.1:p.Val2153Glu
ENST00000679595.1:c.*1498T>A	ENSP00000506241.1:n.*1498T>A
ENST00000679969.1:n.3054T>A
ENST00000680003.1:n.2790T>A
ENST00000680133.1:c.6344T>A	ENSP00000505319.1:p.Val2115Glu
ENST00000680218.1:c.6338T>A	ENSP00000505339.1:p.Val2113Glu
ENST00000680668.1:c.6344T>A	ENSP00000506336.1:p.Val2115Glu
ENST00000680778.1:c.4055T>A	ENSP00000506033.1:p.Val1352Glu
ENST00000680924.1:c.*3858T>A	ENSP00000506031.1:n.*3858T>A
ENST00000681135.1:c.*4067T>A	ENSP00000506636.1:n.*4067T>A
ENST00000681298.1:n.4563T>A
ENST00000681454.1:c.*5694T>A	ENSP00000505763.1:n.*5694T>A
ENST00000277541.6:c.6458T>A	ENSP00000277541.6:p.Val2153Glu
NM_017617.3:c.6458T>A	NP_060087.3:p.Val2153Glu
XM_011518717.1:c.5759T>A	XP_011517019.1:p.Val1920Glu
NM_017617.5:c.6458T>A MANE Select	NP_060087.3:p.Val2153Glu
XM_011518717.2:c.5735T>A	XP_011517019.2:p.Val1912Glu