Canonical Allele Identifier: CA1884231371
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497356G= , CM000671.2:g.136497356G= GRCh38
NC_000009.11:g.139391808G= , CM000671.1:g.139391808G= GRCh37
NC_000009.10:g.138511629G= NCBI36
NG_007458.1:g.53431C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6383C= MANE Select ENSP00000498587.1:p.Pro2128=
ENST00000679595.1:c.*1423C= ENSP00000506241.1:n.*1423C=
ENST00000679969.1:n.2979C=
ENST00000680003.1:n.2715C=
ENST00000680133.1:c.6269C= ENSP00000505319.1:p.Pro2090=
ENST00000680218.1:c.6263C= ENSP00000505339.1:p.Pro2088=
ENST00000680668.1:c.6269C= ENSP00000506336.1:p.Pro2090=
ENST00000680778.1:c.3980C= ENSP00000506033.1:p.Pro1327=
ENST00000680924.1:c.*3783C= ENSP00000506031.1:n.*3783C=
ENST00000681135.1:c.*3992C= ENSP00000506636.1:n.*3992C=
ENST00000681298.1:n.4488C=
ENST00000681454.1:c.*5619C= ENSP00000505763.1:n.*5619C=
ENST00000277541.6:c.6383C= ENSP00000277541.6:p.Pro2128=
NM_017617.3:c.6383C= NP_060087.3:p.Pro2128=
XM_011518717.1:c.5684C= XP_011517019.1:p.Pro1895=
NM_017617.5:c.6383C= MANE Select NP_060087.3:p.Pro2128=
XM_011518717.2:c.5660C= XP_011517019.2:p.Pro1887=