Canonical Allele Identifier: CA1884231288
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497286G= , CM000671.2:g.136497286G= GRCh38
NC_000009.11:g.139391738G= , CM000671.1:g.139391738G= GRCh37
NC_000009.10:g.138511559G= NCBI36
NG_007458.1:g.53501C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6453C= MANE Select ENSP00000498587.1:p.Pro2151=
ENST00000679595.1:c.*1493C= ENSP00000506241.1:n.*1493C=
ENST00000679969.1:n.3049C=
ENST00000680003.1:n.2785C=
ENST00000680133.1:c.6339C= ENSP00000505319.1:p.Pro2113=
ENST00000680218.1:c.6333C= ENSP00000505339.1:p.Pro2111=
ENST00000680668.1:c.6339C= ENSP00000506336.1:p.Pro2113=
ENST00000680778.1:c.4050C= ENSP00000506033.1:p.Pro1350=
ENST00000680924.1:c.*3853C= ENSP00000506031.1:n.*3853C=
ENST00000681135.1:c.*4062C= ENSP00000506636.1:n.*4062C=
ENST00000681298.1:n.4558C=
ENST00000681454.1:c.*5689C= ENSP00000505763.1:n.*5689C=
ENST00000277541.6:c.6453C= ENSP00000277541.6:p.Pro2151=
NM_017617.3:c.6453C= NP_060087.3:p.Pro2151=
XM_011518717.1:c.5754C= XP_011517019.1:p.Pro1918=
NM_017617.5:c.6453C= MANE Select NP_060087.3:p.Pro2151=
XM_011518717.2:c.5730C= XP_011517019.2:p.Pro1910=