Canonical Allele Identifier: CA1884231285
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497285C= , CM000671.2:g.136497285C= GRCh38
NC_000009.11:g.139391737C= , CM000671.1:g.139391737C= GRCh37
NC_000009.10:g.138511558C= NCBI36
NG_007458.1:g.53502G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6454G= MANE Select ENSP00000498587.1:p.Gly2152=
ENST00000679595.1:c.*1494G= ENSP00000506241.1:n.*1494G=
ENST00000679969.1:n.3050G=
ENST00000680003.1:n.2786G=
ENST00000680133.1:c.6340G= ENSP00000505319.1:p.Gly2114=
ENST00000680218.1:c.6334G= ENSP00000505339.1:p.Gly2112=
ENST00000680668.1:c.6340G= ENSP00000506336.1:p.Gly2114=
ENST00000680778.1:c.4051G= ENSP00000506033.1:p.Gly1351=
ENST00000680924.1:c.*3854G= ENSP00000506031.1:n.*3854G=
ENST00000681135.1:c.*4063G= ENSP00000506636.1:n.*4063G=
ENST00000681298.1:n.4559G=
ENST00000681454.1:c.*5690G= ENSP00000505763.1:n.*5690G=
ENST00000277541.6:c.6454G= ENSP00000277541.6:p.Gly2152=
NM_017617.3:c.6454G= NP_060087.3:p.Gly2152=
XM_011518717.1:c.5755G= XP_011517019.1:p.Gly1919=
NM_017617.5:c.6454G= MANE Select NP_060087.3:p.Gly2152=
XM_011518717.2:c.5731G= XP_011517019.2:p.Gly1911=