Canonical Allele Identifier: CA2844614841
Community Standard Title: NM_017617.5(NOTCH1):c.578G= (p.Gly193=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136523014C= , CM000671.2:g.136523014C= GRCh38
NC_000009.11:g.139417466C= , CM000671.1:g.139417466C= GRCh37
NC_000009.10:g.138537287C= NCBI36
NG_007458.1:g.27773G=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.578G= MANE Select NP_060087.3:p.Gly193=
ENST00000651671.1:c.578G= MANE Select ENSP00000498587.1:p.Gly193=
NM_017617.3:c.578G= NP_060087.3:p.Gly193=
ENST00000277541.6:c.578G= ENSP00000277541.6:p.Gly193=
ENST00000491649.1:n.357G=
ENST00000491649.2:n.357G=
ENST00000679595.1:c.578G= ENSP00000506241.1:p.Gly193=
ENST00000680133.1:c.578G= ENSP00000505319.1:p.Gly193=
ENST00000680218.1:c.578G= ENSP00000505339.1:p.Gly193=
ENST00000680668.1:c.578G= ENSP00000506336.1:p.Gly193=
ENST00000680924.1:c.578G= ENSP00000506031.1:p.Gly193=
ENST00000681135.1:c.578G= ENSP00000506636.1:p.Gly193=
ENST00000681454.1:c.141-3449G= ENSP00000505763.1:n.141-3449G=
XM_011518717.1:c.44-3449G= XP_011517019.1:n.44-3449G=
XM_011518717.2:c.20-3449G= XP_011517019.2:n.20-3449G=