Canonical Allele Identifier: CA375644405

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336120
• MyVariant Identifiers: chr9:g.139399231A>T (hg19) ; chr9:g.136504779A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504779A>T , CM000671.2:g.136504779A>T	GRCh38
NC_000009.11:g.139399231A>T , CM000671.1:g.139399231A>T	GRCh37
NC_000009.10:g.138519052A>T	NCBI36
NG_007458.1:g.46008T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2719T>A
ENST00000651671.1:c.4912T>A MANE Select	ENSP00000498587.1:p.Trp1638Arg
ENST00000679595.1:c.4912T>A	ENSP00000506241.1:p.Trp1638Arg
ENST00000680133.1:c.4798T>A	ENSP00000505319.1:p.Trp1600Arg
ENST00000680218.1:c.4792T>A	ENSP00000505339.1:p.Trp1598Arg
ENST00000680668.1:c.4798T>A	ENSP00000506336.1:p.Trp1600Arg
ENST00000680778.1:c.2509T>A	ENSP00000506033.1:p.Trp837Arg
ENST00000680924.1:c.*2312T>A	ENSP00000506031.1:n.*2312T>A
ENST00000681135.1:c.*2521T>A	ENSP00000506636.1:n.*2521T>A
ENST00000681298.1:n.1725T>A
ENST00000681454.1:c.*4148T>A	ENSP00000505763.1:n.*4148T>A
ENST00000277541.6:c.4912T>A	ENSP00000277541.6:p.Trp1638Arg
ENST00000494783.1:n.67T>A
NM_017617.3:c.4912T>A	NP_060087.3:p.Trp1638Arg
XM_011518717.1:c.4213T>A	XP_011517019.1:p.Trp1405Arg
NM_017617.5:c.4912T>A MANE Select	NP_060087.3:p.Trp1638Arg
XM_011518717.2:c.4189T>A	XP_011517019.2:p.Trp1397Arg