Canonical Allele Identifier: CA375645724

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399485T>G (hg19) ; chr9:g.136505033T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505033T>G , CM000671.2:g.136505033T>G	GRCh38
NC_000009.11:g.139399485T>G , CM000671.1:g.139399485T>G	GRCh37
NC_000009.10:g.138519306T>G	NCBI36
NG_007458.1:g.45754A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2465A>C
ENST00000651671.1:c.4658A>C MANE Select	ENSP00000498587.1:p.Glu1553Ala
ENST00000679595.1:c.4658A>C	ENSP00000506241.1:p.Glu1553Ala
ENST00000680133.1:c.4544A>C	ENSP00000505319.1:p.Glu1515Ala
ENST00000680218.1:c.4538A>C	ENSP00000505339.1:p.Glu1513Ala
ENST00000680668.1:c.4544A>C	ENSP00000506336.1:p.Glu1515Ala
ENST00000680778.1:c.2255A>C	ENSP00000506033.1:p.Glu752Ala
ENST00000680924.1:c.*2058A>C	ENSP00000506031.1:n.*2058A>C
ENST00000681135.1:c.*2267A>C	ENSP00000506636.1:n.*2267A>C
ENST00000681298.1:n.1471A>C
ENST00000681454.1:c.*3894A>C	ENSP00000505763.1:n.*3894A>C
ENST00000277541.6:c.4658A>C	ENSP00000277541.6:p.Glu1553Ala
NM_017617.3:c.4658A>C	NP_060087.3:p.Glu1553Ala
XM_011518717.1:c.3959A>C	XP_011517019.1:p.Glu1320Ala
NM_017617.5:c.4658A>C MANE Select	NP_060087.3:p.Glu1553Ala
XM_011518717.2:c.3935A>C	XP_011517019.2:p.Glu1312Ala