Canonical Allele Identifier: CA3165433191
Community Standard Title: NM_017617.5(NOTCH1):c.2014+1G=
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136515289C= , CM000671.2:g.136515289C= GRCh38
NC_000009.11:g.139409741C= , CM000671.1:g.139409741C= GRCh37
NC_000009.10:g.138529562C= NCBI36
NG_007458.1:g.35498G=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.2014+1G= MANE Select NP_060087.3:n.2014+1G=
ENST00000651671.1:c.2014+1G= MANE Select ENSP00000498587.1:n.2014+1G=
NM_017617.3:c.2014+1G= NP_060087.3:n.2014+1G=
ENST00000277541.6:c.2014+1G= ENSP00000277541.6:n.2014+1G=
ENST00000679595.1:c.2014+1G= ENSP00000506241.1:n.2014+1G=
ENST00000680133.1:c.1900+1G= ENSP00000505319.1:n.1900+1G=
ENST00000680218.1:c.2014+1G= ENSP00000505339.1:n.2014+1G=
ENST00000680668.1:c.1900+1G= ENSP00000506336.1:n.1900+1G=
ENST00000680924.1:c.2014+1G= ENSP00000506031.1:n.2014+1G=
ENST00000681135.1:c.2014+1G= ENSP00000506636.1:n.2014+1G=
ENST00000681454.1:c.*1250+1G= ENSP00000505763.1:n.*1250+1G=
XM_011518717.1:c.1315+1G= XP_011517019.1:n.1315+1G=
XM_011518717.2:c.1291+1G= XP_011517019.2:n.1291+1G=