Canonical Allele Identifier: CA375646050

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337838
• MyVariant Identifiers: chr9:g.139399545T>C (hg19) ; chr9:g.136505093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505093T>C , CM000671.2:g.136505093T>C	GRCh38
NC_000009.11:g.139399545T>C , CM000671.1:g.139399545T>C	GRCh37
NC_000009.10:g.138519366T>C	NCBI36
NG_007458.1:g.45694A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2405A>G
ENST00000651671.1:c.4598A>G MANE Select	ENSP00000498587.1:p.Asp1533Gly
ENST00000679595.1:c.4598A>G	ENSP00000506241.1:p.Asp1533Gly
ENST00000680133.1:c.4484A>G	ENSP00000505319.1:p.Asp1495Gly
ENST00000680218.1:c.4478A>G	ENSP00000505339.1:p.Asp1493Gly
ENST00000680668.1:c.4484A>G	ENSP00000506336.1:p.Asp1495Gly
ENST00000680778.1:c.2195A>G	ENSP00000506033.1:p.Asp732Gly
ENST00000680924.1:c.*1998A>G	ENSP00000506031.1:n.*1998A>G
ENST00000681135.1:c.*2207A>G	ENSP00000506636.1:n.*2207A>G
ENST00000681298.1:n.1411A>G
ENST00000681454.1:c.*3834A>G	ENSP00000505763.1:n.*3834A>G
ENST00000277541.6:c.4598A>G	ENSP00000277541.6:p.Asp1533Gly
NM_017617.3:c.4598A>G	NP_060087.3:p.Asp1533Gly
XM_011518717.1:c.3899A>G	XP_011517019.1:p.Asp1300Gly
NM_017617.5:c.4598A>G MANE Select	NP_060087.3:p.Asp1533Gly
XM_011518717.2:c.3875A>G	XP_011517019.2:p.Asp1292Gly