Canonical Allele Identifier: CA1884231139
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497153T= , CM000671.2:g.136497153T= GRCh38
NC_000009.11:g.139391605T= , CM000671.1:g.139391605T= GRCh37
NC_000009.10:g.138511426T= NCBI36
NG_007458.1:g.53634A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6586A= MANE Select ENSP00000498587.1:p.Met2196=
ENST00000679595.1:c.*1626A= ENSP00000506241.1:n.*1626A=
ENST00000679969.1:n.3182A=
ENST00000680003.1:n.2918A=
ENST00000680133.1:c.6472A= ENSP00000505319.1:p.Met2158=
ENST00000680218.1:c.6466A= ENSP00000505339.1:p.Met2156=
ENST00000680668.1:c.6472A= ENSP00000506336.1:p.Met2158=
ENST00000680778.1:c.4183A= ENSP00000506033.1:p.Met1395=
ENST00000680924.1:c.*3986A= ENSP00000506031.1:n.*3986A=
ENST00000681135.1:c.*4195A= ENSP00000506636.1:n.*4195A=
ENST00000681298.1:n.4691A=
ENST00000681454.1:c.*5822A= ENSP00000505763.1:n.*5822A=
ENST00000277541.6:c.6586A= ENSP00000277541.6:p.Met2196=
NM_017617.3:c.6586A= NP_060087.3:p.Met2196=
XM_011518717.1:c.5887A= XP_011517019.1:p.Met1963=
NM_017617.5:c.6586A= MANE Select NP_060087.3:p.Met2196=
XM_011518717.2:c.5863A= XP_011517019.2:p.Met1955=