Canonical Allele Identifier: CA375646013

Gene: NOTCH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2411A>C
ENST00000651671.1:c.4604A>C MANE Select	ENSP00000498587.1:p.Tyr1535Ser
ENST00000679595.1:c.4604A>C	ENSP00000506241.1:p.Tyr1535Ser
ENST00000680133.1:c.4490A>C	ENSP00000505319.1:p.Tyr1497Ser
ENST00000680218.1:c.4484A>C	ENSP00000505339.1:p.Tyr1495Ser
ENST00000680668.1:c.4490A>C	ENSP00000506336.1:p.Tyr1497Ser
ENST00000680778.1:c.2201A>C	ENSP00000506033.1:p.Tyr734Ser
ENST00000680924.1:c.*2004A>C	ENSP00000506031.1:n.*2004A>C
ENST00000681135.1:c.*2213A>C	ENSP00000506636.1:n.*2213A>C
ENST00000681298.1:n.1417A>C
ENST00000681454.1:c.*3840A>C	ENSP00000505763.1:n.*3840A>C
ENST00000277541.6:c.4604A>C	ENSP00000277541.6:p.Tyr1535Ser
NM_017617.3:c.4604A>C	NP_060087.3:p.Tyr1535Ser
XM_011518717.1:c.3905A>C	XP_011517019.1:p.Tyr1302Ser
NM_017617.5:c.4604A>C MANE Select	NP_060087.3:p.Tyr1535Ser
XM_011518717.2:c.3881A>C	XP_011517019.2:p.Tyr1294Ser