Canonical Allele Identifier: CA1884231146
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497156C= , CM000671.2:g.136497156C= GRCh38
NC_000009.11:g.139391608C= , CM000671.1:g.139391608C= GRCh37
NC_000009.10:g.138511429C= NCBI36
NG_007458.1:g.53631G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6583G= MANE Select ENSP00000498587.1:p.Gly2195=
ENST00000679595.1:c.*1623G= ENSP00000506241.1:n.*1623G=
ENST00000679969.1:n.3179G=
ENST00000680003.1:n.2915G=
ENST00000680133.1:c.6469G= ENSP00000505319.1:p.Gly2157=
ENST00000680218.1:c.6463G= ENSP00000505339.1:p.Gly2155=
ENST00000680668.1:c.6469G= ENSP00000506336.1:p.Gly2157=
ENST00000680778.1:c.4180G= ENSP00000506033.1:p.Gly1394=
ENST00000680924.1:c.*3983G= ENSP00000506031.1:n.*3983G=
ENST00000681135.1:c.*4192G= ENSP00000506636.1:n.*4192G=
ENST00000681298.1:n.4688G=
ENST00000681454.1:c.*5819G= ENSP00000505763.1:n.*5819G=
ENST00000277541.6:c.6583G= ENSP00000277541.6:p.Gly2195=
NM_017617.3:c.6583G= NP_060087.3:p.Gly2195=
XM_011518717.1:c.5884G= XP_011517019.1:p.Gly1962=
NM_017617.5:c.6583G= MANE Select NP_060087.3:p.Gly2195=
XM_011518717.2:c.5860G= XP_011517019.2:p.Gly1954=