Canonical Allele Identifier: CA375634324

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393590G>T (hg19) ; chr9:g.136499138G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499138G>T , CM000671.2:g.136499138G>T	GRCh38
NC_000009.11:g.139393590G>T , CM000671.1:g.139393590G>T	GRCh37
NC_000009.10:g.138513411G>T	NCBI36
NG_007458.1:g.51649C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6056C>A MANE Select	ENSP00000498587.1:p.Ala2019Asp
ENST00000679595.1:c.*1096C>A	ENSP00000506241.1:n.*1096C>A
ENST00000679969.1:n.2537C>A
ENST00000680003.1:n.2388C>A
ENST00000680133.1:c.5942C>A	ENSP00000505319.1:p.Ala1981Asp
ENST00000680218.1:c.5936C>A	ENSP00000505339.1:p.Ala1979Asp
ENST00000680668.1:c.5942C>A	ENSP00000506336.1:p.Ala1981Asp
ENST00000680778.1:c.3653C>A	ENSP00000506033.1:p.Ala1218Asp
ENST00000680924.1:c.*3456C>A	ENSP00000506031.1:n.*3456C>A
ENST00000681135.1:c.*3665C>A	ENSP00000506636.1:n.*3665C>A
ENST00000681298.1:n.4161C>A
ENST00000681454.1:c.*5292C>A	ENSP00000505763.1:n.*5292C>A
ENST00000277541.6:c.6056C>A	ENSP00000277541.6:p.Ala2019Asp
NM_017617.3:c.6056C>A	NP_060087.3:p.Ala2019Asp
XM_011518717.1:c.5357C>A	XP_011517019.1:p.Ala1786Asp
NM_017617.5:c.6056C>A MANE Select	NP_060087.3:p.Ala2019Asp
XM_011518717.2:c.5333C>A	XP_011517019.2:p.Ala1778Asp