Canonical Allele Identifier: CA467832706
Community Standard Title: NM_017617.5(NOTCH1):c.4851C>T (p.Phe1617=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504840G>A , CM000671.2:g.136504840G>A GRCh38
NC_000009.11:g.139399292G>A , CM000671.1:g.139399292G>A GRCh37
NC_000009.10:g.138519113G>A NCBI36
NG_007458.1:g.45947C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4851C>T MANE Select NP_060087.3:p.Phe1617=
ENST00000651671.1:c.4851C>T MANE Select ENSP00000498587.1:p.Phe1617=
NM_017617.3:c.4851C>T NP_060087.3:p.Phe1617=
ENST00000277541.6:c.4851C>T ENSP00000277541.6:p.Phe1617=
ENST00000494783.1:n.6C>T
ENST00000645828.1:n.2658C>T
ENST00000679595.1:c.4851C>T ENSP00000506241.1:p.Phe1617=
ENST00000680133.1:c.4737C>T ENSP00000505319.1:p.Phe1579=
ENST00000680218.1:c.4731C>T ENSP00000505339.1:p.Phe1577=
ENST00000680668.1:c.4737C>T ENSP00000506336.1:p.Phe1579=
ENST00000680778.1:c.2448C>T ENSP00000506033.1:p.Phe816=
ENST00000680924.1:c.*2251C>T ENSP00000506031.1:n.*2251C>T
ENST00000681135.1:c.*2460C>T ENSP00000506636.1:n.*2460C>T
ENST00000681298.1:n.1664C>T
ENST00000681454.1:c.*4087C>T ENSP00000505763.1:n.*4087C>T
XM_011518717.1:c.4152C>T XP_011517019.1:p.Phe1384=
XM_011518717.2:c.4128C>T XP_011517019.2:p.Phe1376=