Canonical Allele Identifier: CA375555531

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133354940
• MyVariant Identifiers: chr9:g.139405702A>T (hg19) ; chr9:g.136511250A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511250A>T , CM000671.2:g.136511250A>T	GRCh38
NC_000009.11:g.139405702A>T , CM000671.1:g.139405702A>T	GRCh37
NC_000009.10:g.138525523A>T	NCBI36
NG_007458.1:g.39537T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.296T>A
ENST00000646957.2:n.112T>A
ENST00000651671.1:c.2489T>A MANE Select	ENSP00000498587.1:p.Leu830Gln
ENST00000679595.1:c.2489T>A	ENSP00000506241.1:p.Leu830Gln
ENST00000680133.1:c.2375T>A	ENSP00000505319.1:p.Leu792Gln
ENST00000680218.1:c.2489T>A	ENSP00000505339.1:p.Leu830Gln
ENST00000680668.1:c.2375T>A	ENSP00000506336.1:p.Leu792Gln
ENST00000680778.1:c.86T>A	ENSP00000506033.1:p.Leu29Gln
ENST00000680924.1:c.2489T>A	ENSP00000506031.1:p.Leu830Gln
ENST00000681135.1:c.*98T>A	ENSP00000506636.1:n.*98T>A
ENST00000681454.1:c.*1725T>A	ENSP00000505763.1:n.*1725T>A
ENST00000277541.6:c.2489T>A	ENSP00000277541.6:p.Leu830Gln
NM_017617.3:c.2489T>A	NP_060087.3:p.Leu830Gln
XM_011518717.1:c.1790T>A	XP_011517019.1:p.Leu597Gln
NM_017617.5:c.2489T>A MANE Select	NP_060087.3:p.Leu830Gln
XM_011518717.2:c.1766T>A	XP_011517019.2:p.Leu589Gln