Canonical Allele Identifier: CA3165921485
Community Standard Title: NM_017617.5(NOTCH1):c.4121G= (p.Cys1374=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136505775C= , CM000671.2:g.136505775C= GRCh38
NC_000009.11:g.139400227C= , CM000671.1:g.139400227C= GRCh37
NC_000009.10:g.138520048C= NCBI36
NG_007458.1:g.45012G=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4121G= MANE Select NP_060087.3:p.Cys1374=
ENST00000651671.1:c.4121G= MANE Select ENSP00000498587.1:p.Cys1374=
NM_017617.3:c.4121G= NP_060087.3:p.Cys1374=
ENST00000277541.6:c.4121G= ENSP00000277541.6:p.Cys1374=
ENST00000645828.1:n.1928G=
ENST00000679595.1:c.4121G= ENSP00000506241.1:p.Cys1374=
ENST00000680133.1:c.4007G= ENSP00000505319.1:p.Cys1336=
ENST00000680218.1:c.4001G= ENSP00000505339.1:p.Cys1334=
ENST00000680668.1:c.4007G= ENSP00000506336.1:p.Cys1336=
ENST00000680778.1:c.1718G= ENSP00000506033.1:p.Cys573=
ENST00000680924.1:c.*1521G= ENSP00000506031.1:n.*1521G=
ENST00000681135.1:c.*1730G= ENSP00000506636.1:n.*1730G=
ENST00000681298.1:n.934G=
ENST00000681454.1:c.*3357G= ENSP00000505763.1:n.*3357G=
XM_011518717.1:c.3422G= XP_011517019.1:p.Cys1141=
XM_011518717.2:c.3398G= XP_011517019.2:p.Cys1133=