Canonical Allele Identifier: CA375646015

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337815
• MyVariant Identifiers: chr9:g.139399539T>A (hg19) ; chr9:g.136505087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505087T>A , CM000671.2:g.136505087T>A	GRCh38
NC_000009.11:g.139399539T>A , CM000671.1:g.139399539T>A	GRCh37
NC_000009.10:g.138519360T>A	NCBI36
NG_007458.1:g.45700A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2411A>T
ENST00000651671.1:c.4604A>T MANE Select	ENSP00000498587.1:p.Tyr1535Phe
ENST00000679595.1:c.4604A>T	ENSP00000506241.1:p.Tyr1535Phe
ENST00000680133.1:c.4490A>T	ENSP00000505319.1:p.Tyr1497Phe
ENST00000680218.1:c.4484A>T	ENSP00000505339.1:p.Tyr1495Phe
ENST00000680668.1:c.4490A>T	ENSP00000506336.1:p.Tyr1497Phe
ENST00000680778.1:c.2201A>T	ENSP00000506033.1:p.Tyr734Phe
ENST00000680924.1:c.*2004A>T	ENSP00000506031.1:n.*2004A>T
ENST00000681135.1:c.*2213A>T	ENSP00000506636.1:n.*2213A>T
ENST00000681298.1:n.1417A>T
ENST00000681454.1:c.*3840A>T	ENSP00000505763.1:n.*3840A>T
ENST00000277541.6:c.4604A>T	ENSP00000277541.6:p.Tyr1535Phe
NM_017617.3:c.4604A>T	NP_060087.3:p.Tyr1535Phe
XM_011518717.1:c.3905A>T	XP_011517019.1:p.Tyr1302Phe
NM_017617.5:c.4604A>T MANE Select	NP_060087.3:p.Tyr1535Phe
XM_011518717.2:c.3881A>T	XP_011517019.2:p.Tyr1294Phe