Canonical Allele Identifier: CA1884231179
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497183C= , CM000671.2:g.136497183C= GRCh38
NC_000009.11:g.139391635C= , CM000671.1:g.139391635C= GRCh37
NC_000009.10:g.138511456C= NCBI36
NG_007458.1:g.53604G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6556G= MANE Select ENSP00000498587.1:p.Gly2186=
ENST00000679595.1:c.*1596G= ENSP00000506241.1:n.*1596G=
ENST00000679969.1:n.3152G=
ENST00000680003.1:n.2888G=
ENST00000680133.1:c.6442G= ENSP00000505319.1:p.Gly2148=
ENST00000680218.1:c.6436G= ENSP00000505339.1:p.Gly2146=
ENST00000680668.1:c.6442G= ENSP00000506336.1:p.Gly2148=
ENST00000680778.1:c.4153G= ENSP00000506033.1:p.Gly1385=
ENST00000680924.1:c.*3956G= ENSP00000506031.1:n.*3956G=
ENST00000681135.1:c.*4165G= ENSP00000506636.1:n.*4165G=
ENST00000681298.1:n.4661G=
ENST00000681454.1:c.*5792G= ENSP00000505763.1:n.*5792G=
ENST00000277541.6:c.6556G= ENSP00000277541.6:p.Gly2186=
NM_017617.3:c.6556G= NP_060087.3:p.Gly2186=
XM_011518717.1:c.5857G= XP_011517019.1:p.Gly1953=
NM_017617.5:c.6556G= MANE Select NP_060087.3:p.Gly2186=
XM_011518717.2:c.5833G= XP_011517019.2:p.Gly1945=