Canonical Allele Identifier: CA375645743

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1438164851
• MyVariant Identifiers: chr9:g.139399489C>G (hg19) ; chr9:g.136505037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505037C>G , CM000671.2:g.136505037C>G	GRCh38
NC_000009.11:g.139399489C>G , CM000671.1:g.139399489C>G	GRCh37
NC_000009.10:g.138519310C>G	NCBI36
NG_007458.1:g.45750G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2461G>C
ENST00000651671.1:c.4654G>C MANE Select	ENSP00000498587.1:p.Ala1552Pro
ENST00000679595.1:c.4654G>C	ENSP00000506241.1:p.Ala1552Pro
ENST00000680133.1:c.4540G>C	ENSP00000505319.1:p.Ala1514Pro
ENST00000680218.1:c.4534G>C	ENSP00000505339.1:p.Ala1512Pro
ENST00000680668.1:c.4540G>C	ENSP00000506336.1:p.Ala1514Pro
ENST00000680778.1:c.2251G>C	ENSP00000506033.1:p.Ala751Pro
ENST00000680924.1:c.*2054G>C	ENSP00000506031.1:n.*2054G>C
ENST00000681135.1:c.*2263G>C	ENSP00000506636.1:n.*2263G>C
ENST00000681298.1:n.1467G>C
ENST00000681454.1:c.*3890G>C	ENSP00000505763.1:n.*3890G>C
ENST00000277541.6:c.4654G>C	ENSP00000277541.6:p.Ala1552Pro
NM_017617.3:c.4654G>C	NP_060087.3:p.Ala1552Pro
XM_011518717.1:c.3955G>C	XP_011517019.1:p.Ala1319Pro
NM_017617.5:c.4654G>C MANE Select	NP_060087.3:p.Ala1552Pro
XM_011518717.2:c.3931G>C	XP_011517019.2:p.Ala1311Pro