Canonical Allele Identifier: CA375631369

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318110
• gnomAD v4: 9-136497206-G-T
• MyVariant Identifiers: chr9:g.139391658G>T (hg19) ; chr9:g.136497206G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497206G>T , CM000671.2:g.136497206G>T	GRCh38
NC_000009.11:g.139391658G>T , CM000671.1:g.139391658G>T	GRCh37
NC_000009.10:g.138511479G>T	NCBI36
NG_007458.1:g.53581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6533C>A MANE Select	ENSP00000498587.1:p.Ala2178Glu
ENST00000679595.1:c.*1573C>A	ENSP00000506241.1:n.*1573C>A
ENST00000679969.1:n.3129C>A
ENST00000680003.1:n.2865C>A
ENST00000680133.1:c.6419C>A	ENSP00000505319.1:p.Ala2140Glu
ENST00000680218.1:c.6413C>A	ENSP00000505339.1:p.Ala2138Glu
ENST00000680668.1:c.6419C>A	ENSP00000506336.1:p.Ala2140Glu
ENST00000680778.1:c.4130C>A	ENSP00000506033.1:p.Ala1377Glu
ENST00000680924.1:c.*3933C>A	ENSP00000506031.1:n.*3933C>A
ENST00000681135.1:c.*4142C>A	ENSP00000506636.1:n.*4142C>A
ENST00000681298.1:n.4638C>A
ENST00000681454.1:c.*5769C>A	ENSP00000505763.1:n.*5769C>A
ENST00000277541.6:c.6533C>A	ENSP00000277541.6:p.Ala2178Glu
NM_017617.3:c.6533C>A	NP_060087.3:p.Ala2178Glu
XM_011518717.1:c.5834C>A	XP_011517019.1:p.Ala1945Glu
NM_017617.5:c.6533C>A MANE Select	NP_060087.3:p.Ala2178Glu
XM_011518717.2:c.5810C>A	XP_011517019.2:p.Ala1937Glu