Canonical Allele Identifier: CA3165530935
Community Standard Title: NM_017617.5(NOTCH1):c.4487G= (p.Cys1496=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136505409C= , CM000671.2:g.136505409C= GRCh38
NC_000009.11:g.139399861C= , CM000671.1:g.139399861C= GRCh37
NC_000009.10:g.138519682C= NCBI36
NG_007458.1:g.45378G=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4487G= MANE Select NP_060087.3:p.Cys1496=
ENST00000651671.1:c.4487G= MANE Select ENSP00000498587.1:p.Cys1496=
NM_017617.3:c.4487G= NP_060087.3:p.Cys1496=
ENST00000277541.6:c.4487G= ENSP00000277541.6:p.Cys1496=
ENST00000645828.1:n.2294G=
ENST00000679595.1:c.4487G= ENSP00000506241.1:p.Cys1496=
ENST00000680133.1:c.4373G= ENSP00000505319.1:p.Cys1458=
ENST00000680218.1:c.4367G= ENSP00000505339.1:p.Cys1456=
ENST00000680668.1:c.4373G= ENSP00000506336.1:p.Cys1458=
ENST00000680778.1:c.2084G= ENSP00000506033.1:p.Cys695=
ENST00000680924.1:c.*1887G= ENSP00000506031.1:n.*1887G=
ENST00000681135.1:c.*2096G= ENSP00000506636.1:n.*2096G=
ENST00000681298.1:n.1300G=
ENST00000681454.1:c.*3723G= ENSP00000505763.1:n.*3723G=
XM_011518717.1:c.3788G= XP_011517019.1:p.Cys1263=
XM_011518717.2:c.3764G= XP_011517019.2:p.Cys1255=