Canonical Allele Identifier: CA1884231265
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497273T= , CM000671.2:g.136497273T= GRCh38
NC_000009.11:g.139391725T= , CM000671.1:g.139391725T= GRCh37
NC_000009.10:g.138511546T= NCBI36
NG_007458.1:g.53514A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6466A= MANE Select ENSP00000498587.1:p.Lys2156=
ENST00000679595.1:c.*1506A= ENSP00000506241.1:n.*1506A=
ENST00000679969.1:n.3062A=
ENST00000680003.1:n.2798A=
ENST00000680133.1:c.6352A= ENSP00000505319.1:p.Lys2118=
ENST00000680218.1:c.6346A= ENSP00000505339.1:p.Lys2116=
ENST00000680668.1:c.6352A= ENSP00000506336.1:p.Lys2118=
ENST00000680778.1:c.4063A= ENSP00000506033.1:p.Lys1355=
ENST00000680924.1:c.*3866A= ENSP00000506031.1:n.*3866A=
ENST00000681135.1:c.*4075A= ENSP00000506636.1:n.*4075A=
ENST00000681298.1:n.4571A=
ENST00000681454.1:c.*5702A= ENSP00000505763.1:n.*5702A=
ENST00000277541.6:c.6466A= ENSP00000277541.6:p.Lys2156=
NM_017617.3:c.6466A= NP_060087.3:p.Lys2156=
XM_011518717.1:c.5767A= XP_011517019.1:p.Lys1923=
NM_017617.5:c.6466A= MANE Select NP_060087.3:p.Lys2156=
XM_011518717.2:c.5743A= XP_011517019.2:p.Lys1915=