Canonical Allele Identifier: CA375643947

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335663
• MyVariant Identifiers: chr9:g.139399134T>A (hg19) ; chr9:g.136504682T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504682T>A , CM000671.2:g.136504682T>A	GRCh38
NC_000009.11:g.139399134T>A , CM000671.1:g.139399134T>A	GRCh37
NC_000009.10:g.138518955T>A	NCBI36
NG_007458.1:g.46105A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.2816A>T
ENST00000651671.1:c.5009A>T MANE Select	ENSP00000498587.1:p.Asp1670Val
ENST00000679595.1:c.5009A>T	ENSP00000506241.1:p.Asp1670Val
ENST00000680133.1:c.4895A>T	ENSP00000505319.1:p.Asp1632Val
ENST00000680218.1:c.4889A>T	ENSP00000505339.1:p.Asp1630Val
ENST00000680668.1:c.4895A>T	ENSP00000506336.1:p.Asp1632Val
ENST00000680778.1:c.2606A>T	ENSP00000506033.1:p.Asp869Val
ENST00000680924.1:c.*2409A>T	ENSP00000506031.1:n.*2409A>T
ENST00000681135.1:c.*2618A>T	ENSP00000506636.1:n.*2618A>T
ENST00000681298.1:n.1822A>T
ENST00000681454.1:c.*4245A>T	ENSP00000505763.1:n.*4245A>T
ENST00000277541.6:c.5009A>T	ENSP00000277541.6:p.Asp1670Val
ENST00000494783.1:n.164A>T
NM_017617.3:c.5009A>T	NP_060087.3:p.Asp1670Val
XM_011518717.1:c.4310A>T	XP_011517019.1:p.Asp1437Val
NM_017617.5:c.5009A>T MANE Select	NP_060087.3:p.Asp1670Val
XM_011518717.2:c.4286A>T	XP_011517019.2:p.Asp1429Val