Canonical Allele Identifier: CA1884232439
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136498928C= , CM000671.2:g.136498928C= GRCh38
NC_000009.11:g.139393380C= , CM000671.1:g.139393380C= GRCh37
NC_000009.10:g.138513201C= NCBI36
NG_007458.1:g.51859G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6151G= MANE Select ENSP00000498587.1:p.Gly2051=
ENST00000679595.1:c.*1191G= ENSP00000506241.1:n.*1191G=
ENST00000679969.1:n.2747G=
ENST00000680003.1:n.2483G=
ENST00000680133.1:c.6037G= ENSP00000505319.1:p.Gly2013=
ENST00000680218.1:c.6031G= ENSP00000505339.1:p.Gly2011=
ENST00000680668.1:c.6037G= ENSP00000506336.1:p.Gly2013=
ENST00000680778.1:c.3748G= ENSP00000506033.1:p.Gly1250=
ENST00000680924.1:c.*3551G= ENSP00000506031.1:n.*3551G=
ENST00000681135.1:c.*3760G= ENSP00000506636.1:n.*3760G=
ENST00000681298.1:n.4256G=
ENST00000681454.1:c.*5387G= ENSP00000505763.1:n.*5387G=
ENST00000277541.6:c.6151G= ENSP00000277541.6:p.Gly2051=
NM_017617.3:c.6151G= NP_060087.3:p.Gly2051=
XM_011518717.1:c.5452G= XP_011517019.1:p.Gly1818=
NM_017617.5:c.6151G= MANE Select NP_060087.3:p.Gly2051=
XM_011518717.2:c.5428G= XP_011517019.2:p.Gly1810=