Canonical Allele Identifier: CA3165548067
Community Standard Title: NM_017617.5(NOTCH1):c.1220C= (p.Pro407=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136518172G= , CM000671.2:g.136518172G= GRCh38
NC_000009.11:g.139412624G= , CM000671.1:g.139412624G= GRCh37
NC_000009.10:g.138532445G= NCBI36
NG_007458.1:g.32615C=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.1220C= MANE Select NP_060087.3:p.Pro407=
ENST00000651671.1:c.1220C= MANE Select ENSP00000498587.1:p.Pro407=
NM_017617.3:c.1220C= NP_060087.3:p.Pro407=
ENST00000277541.6:c.1220C= ENSP00000277541.6:p.Pro407=
ENST00000679595.1:c.1220C= ENSP00000506241.1:p.Pro407=
ENST00000680133.1:c.1220C= ENSP00000505319.1:p.Pro407=
ENST00000680218.1:c.1220C= ENSP00000505339.1:p.Pro407=
ENST00000680668.1:c.1220C= ENSP00000506336.1:p.Pro407=
ENST00000680924.1:c.1220C= ENSP00000506031.1:p.Pro407=
ENST00000681135.1:c.1220C= ENSP00000506636.1:p.Pro407=
ENST00000681454.1:c.*456C= ENSP00000505763.1:n.*456C=
XM_011518717.1:c.521C= XP_011517019.1:p.Pro174=
XM_011518717.2:c.497C= XP_011517019.2:p.Pro166=