Canonical Allele Identifier: CA467833034

Gene: NOTCH1

Linked Data

• dbSNP Id: rs375091696
• MyVariant Identifiers: chr9:g.139399487C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505035C>A , CM000671.2:g.136505035C>A	GRCh38
NC_000009.11:g.139399487C>A , CM000671.1:g.139399487C>A	GRCh37
NC_000009.10:g.138519308C>A	NCBI36
NG_007458.1:g.45752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2463G>T
ENST00000651671.1:c.4656G>T MANE Select	ENSP00000498587.1:p.Ala1552=
ENST00000679595.1:c.4656G>T	ENSP00000506241.1:p.Ala1552=
ENST00000680133.1:c.4542G>T	ENSP00000505319.1:p.Ala1514=
ENST00000680218.1:c.4536G>T	ENSP00000505339.1:p.Ala1512=
ENST00000680668.1:c.4542G>T	ENSP00000506336.1:p.Ala1514=
ENST00000680778.1:c.2253G>T	ENSP00000506033.1:p.Ala751=
ENST00000680924.1:c.*2056G>T	ENSP00000506031.1:n.*2056G>T
ENST00000681135.1:c.*2265G>T	ENSP00000506636.1:n.*2265G>T
ENST00000681298.1:n.1469G>T
ENST00000681454.1:c.*3892G>T	ENSP00000505763.1:n.*3892G>T
ENST00000277541.6:c.4656G>T	ENSP00000277541.6:p.Ala1552=
NM_017617.3:c.4656G>T	NP_060087.3:p.Ala1552=
XM_011518717.1:c.3957G>T	XP_011517019.1:p.Ala1319=
NM_017617.5:c.4656G>T MANE Select	NP_060087.3:p.Ala1552=
XM_011518717.2:c.3933G>T	XP_011517019.2:p.Ala1311=