Canonical Allele Identifier: CA1884232374
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136498852T= , CM000671.2:g.136498852T= GRCh38
NC_000009.11:g.139393304T= , CM000671.1:g.139393304T= GRCh37
NC_000009.10:g.138513125T= NCBI36
NG_007458.1:g.51935A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6180+47A= MANE Select ENSP00000498587.1:n.6180+47A=
ENST00000679595.1:c.*1220+47A= ENSP00000506241.1:n.*1220+47A=
ENST00000679969.1:n.2776+47A=
ENST00000680003.1:n.2512+47A=
ENST00000680133.1:c.6066+47A= ENSP00000505319.1:n.6066+47A=
ENST00000680218.1:c.6060+47A= ENSP00000505339.1:n.6060+47A=
ENST00000680668.1:c.6066+47A= ENSP00000506336.1:n.6066+47A=
ENST00000680778.1:c.3777+47A= ENSP00000506033.1:n.3777+47A=
ENST00000680924.1:c.*3580+47A= ENSP00000506031.1:n.*3580+47A=
ENST00000681135.1:c.*3789+47A= ENSP00000506636.1:n.*3789+47A=
ENST00000681298.1:n.4285+47A=
ENST00000681454.1:c.*5416+47A= ENSP00000505763.1:n.*5416+47A=
ENST00000277541.6:c.6180+47A= ENSP00000277541.6:n.6180+47A=
NM_017617.3:c.6180+47A= NP_060087.3:n.6180+47A=
XM_011518717.1:c.5481+47A= XP_011517019.1:n.5481+47A=
NM_017617.5:c.6180+47A= MANE Select NP_060087.3:n.6180+47A=
XM_011518717.2:c.5457+47A= XP_011517019.2:n.5457+47A=