Canonical Allele Identifier: CA3169231610
Community Standard Title: NM_017617.5(NOTCH1):c.4850T= (p.Phe1617=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504841A= , CM000671.2:g.136504841A= GRCh38
NC_000009.11:g.139399293A= , CM000671.1:g.139399293A= GRCh37
NC_000009.10:g.138519114A= NCBI36
NG_007458.1:g.45946T=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4850T= MANE Select NP_060087.3:p.Phe1617=
ENST00000651671.1:c.4850T= MANE Select ENSP00000498587.1:p.Phe1617=
NM_017617.3:c.4850T= NP_060087.3:p.Phe1617=
ENST00000277541.6:c.4850T= ENSP00000277541.6:p.Phe1617=
ENST00000494783.1:n.5T=
ENST00000645828.1:n.2657T=
ENST00000679595.1:c.4850T= ENSP00000506241.1:p.Phe1617=
ENST00000680133.1:c.4736T= ENSP00000505319.1:p.Phe1579=
ENST00000680218.1:c.4730T= ENSP00000505339.1:p.Phe1577=
ENST00000680668.1:c.4736T= ENSP00000506336.1:p.Phe1579=
ENST00000680778.1:c.2447T= ENSP00000506033.1:p.Phe816=
ENST00000680924.1:c.*2250T= ENSP00000506031.1:n.*2250T=
ENST00000681135.1:c.*2459T= ENSP00000506636.1:n.*2459T=
ENST00000681298.1:n.1663T=
ENST00000681454.1:c.*4086T= ENSP00000505763.1:n.*4086T=
XM_011518717.1:c.4151T= XP_011517019.1:p.Phe1384=
XM_011518717.2:c.4127T= XP_011517019.2:p.Phe1376=