Canonical Allele Identifier: CA1884231228
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497236C= , CM000671.2:g.136497236C= GRCh38
NC_000009.11:g.139391688C= , CM000671.1:g.139391688C= GRCh37
NC_000009.10:g.138511509C= NCBI36
NG_007458.1:g.53551G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6503G= MANE Select ENSP00000498587.1:p.Cys2168=
ENST00000679595.1:c.*1543G= ENSP00000506241.1:n.*1543G=
ENST00000679969.1:n.3099G=
ENST00000680003.1:n.2835G=
ENST00000680133.1:c.6389G= ENSP00000505319.1:p.Cys2130=
ENST00000680218.1:c.6383G= ENSP00000505339.1:p.Cys2128=
ENST00000680668.1:c.6389G= ENSP00000506336.1:p.Cys2130=
ENST00000680778.1:c.4100G= ENSP00000506033.1:p.Cys1367=
ENST00000680924.1:c.*3903G= ENSP00000506031.1:n.*3903G=
ENST00000681135.1:c.*4112G= ENSP00000506636.1:n.*4112G=
ENST00000681298.1:n.4608G=
ENST00000681454.1:c.*5739G= ENSP00000505763.1:n.*5739G=
ENST00000277541.6:c.6503G= ENSP00000277541.6:p.Cys2168=
NM_017617.3:c.6503G= NP_060087.3:p.Cys2168=
XM_011518717.1:c.5804G= XP_011517019.1:p.Cys1935=
NM_017617.5:c.6503G= MANE Select NP_060087.3:p.Cys2168=
XM_011518717.2:c.5780G= XP_011517019.2:p.Cys1927=