Canonical Allele Identifier: CA375645741

Gene: NOTCH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2461G>T
ENST00000651671.1:c.4654G>T MANE Select	ENSP00000498587.1:p.Ala1552Ser
ENST00000679595.1:c.4654G>T	ENSP00000506241.1:p.Ala1552Ser
ENST00000680133.1:c.4540G>T	ENSP00000505319.1:p.Ala1514Ser
ENST00000680218.1:c.4534G>T	ENSP00000505339.1:p.Ala1512Ser
ENST00000680668.1:c.4540G>T	ENSP00000506336.1:p.Ala1514Ser
ENST00000680778.1:c.2251G>T	ENSP00000506033.1:p.Ala751Ser
ENST00000680924.1:c.*2054G>T	ENSP00000506031.1:n.*2054G>T
ENST00000681135.1:c.*2263G>T	ENSP00000506636.1:n.*2263G>T
ENST00000681298.1:n.1467G>T
ENST00000681454.1:c.*3890G>T	ENSP00000505763.1:n.*3890G>T
ENST00000277541.6:c.4654G>T	ENSP00000277541.6:p.Ala1552Ser
NM_017617.3:c.4654G>T	NP_060087.3:p.Ala1552Ser
XM_011518717.1:c.3955G>T	XP_011517019.1:p.Ala1319Ser
NM_017617.5:c.4654G>T MANE Select	NP_060087.3:p.Ala1552Ser
XM_011518717.2:c.3931G>T	XP_011517019.2:p.Ala1311Ser