Canonical Allele Identifier: CA3166440918
Community Standard Title: NM_017617.5(NOTCH1):c.4852C= (p.Pro1618=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504839G= , CM000671.2:g.136504839G= GRCh38
NC_000009.11:g.139399291G= , CM000671.1:g.139399291G= GRCh37
NC_000009.10:g.138519112G= NCBI36
NG_007458.1:g.45948C=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4852C= MANE Select NP_060087.3:p.Pro1618=
ENST00000651671.1:c.4852C= MANE Select ENSP00000498587.1:p.Pro1618=
NM_017617.3:c.4852C= NP_060087.3:p.Pro1618=
ENST00000277541.6:c.4852C= ENSP00000277541.6:p.Pro1618=
ENST00000494783.1:n.7C=
ENST00000645828.1:n.2659C=
ENST00000679595.1:c.4852C= ENSP00000506241.1:p.Pro1618=
ENST00000680133.1:c.4738C= ENSP00000505319.1:p.Pro1580=
ENST00000680218.1:c.4732C= ENSP00000505339.1:p.Pro1578=
ENST00000680668.1:c.4738C= ENSP00000506336.1:p.Pro1580=
ENST00000680778.1:c.2449C= ENSP00000506033.1:p.Pro817=
ENST00000680924.1:c.*2252C= ENSP00000506031.1:n.*2252C=
ENST00000681135.1:c.*2461C= ENSP00000506636.1:n.*2461C=
ENST00000681298.1:n.1665C=
ENST00000681454.1:c.*4088C= ENSP00000505763.1:n.*4088C=
XM_011518717.1:c.4153C= XP_011517019.1:p.Pro1385=
XM_011518717.2:c.4129C= XP_011517019.2:p.Pro1377=