Canonical Allele Identifier: CA375643950

Gene: NOTCH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2816A>C
ENST00000651671.1:c.5009A>C MANE Select	ENSP00000498587.1:p.Asp1670Ala
ENST00000679595.1:c.5009A>C	ENSP00000506241.1:p.Asp1670Ala
ENST00000680133.1:c.4895A>C	ENSP00000505319.1:p.Asp1632Ala
ENST00000680218.1:c.4889A>C	ENSP00000505339.1:p.Asp1630Ala
ENST00000680668.1:c.4895A>C	ENSP00000506336.1:p.Asp1632Ala
ENST00000680778.1:c.2606A>C	ENSP00000506033.1:p.Asp869Ala
ENST00000680924.1:c.*2409A>C	ENSP00000506031.1:n.*2409A>C
ENST00000681135.1:c.*2618A>C	ENSP00000506636.1:n.*2618A>C
ENST00000681298.1:n.1822A>C
ENST00000681454.1:c.*4245A>C	ENSP00000505763.1:n.*4245A>C
ENST00000277541.6:c.5009A>C	ENSP00000277541.6:p.Asp1670Ala
ENST00000494783.1:n.164A>C
NM_017617.3:c.5009A>C	NP_060087.3:p.Asp1670Ala
XM_011518717.1:c.4310A>C	XP_011517019.1:p.Asp1437Ala
NM_017617.5:c.5009A>C MANE Select	NP_060087.3:p.Asp1670Ala
XM_011518717.2:c.4286A>C	XP_011517019.2:p.Asp1429Ala