Canonical Allele Identifier: CA1884231376
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497362C= , CM000671.2:g.136497362C= GRCh38
NC_000009.11:g.139391814C= , CM000671.1:g.139391814C= GRCh37
NC_000009.10:g.138511635C= NCBI36
NG_007458.1:g.53425G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6377G= MANE Select ENSP00000498587.1:p.Gly2126=
ENST00000679595.1:c.*1417G= ENSP00000506241.1:n.*1417G=
ENST00000679969.1:n.2973G=
ENST00000680003.1:n.2709G=
ENST00000680133.1:c.6263G= ENSP00000505319.1:p.Gly2088=
ENST00000680218.1:c.6257G= ENSP00000505339.1:p.Gly2086=
ENST00000680668.1:c.6263G= ENSP00000506336.1:p.Gly2088=
ENST00000680778.1:c.3974G= ENSP00000506033.1:p.Gly1325=
ENST00000680924.1:c.*3777G= ENSP00000506031.1:n.*3777G=
ENST00000681135.1:c.*3986G= ENSP00000506636.1:n.*3986G=
ENST00000681298.1:n.4482G=
ENST00000681454.1:c.*5613G= ENSP00000505763.1:n.*5613G=
ENST00000277541.6:c.6377G= ENSP00000277541.6:p.Gly2126=
NM_017617.3:c.6377G= NP_060087.3:p.Gly2126=
XM_011518717.1:c.5678G= XP_011517019.1:p.Gly1893=
NM_017617.5:c.6377G= MANE Select NP_060087.3:p.Gly2126=
XM_011518717.2:c.5654G= XP_011517019.2:p.Gly1885=