Canonical Allele Identifier: CA375628934
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136496661A>T , CM000671.2:g.136496661A>T GRCh38
NC_000009.11:g.139391113A>T , CM000671.1:g.139391113A>T GRCh37
NC_000009.10:g.138510934A>T NCBI36
NG_007458.1:g.54126T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.7078T>A MANE Select ENSP00000498587.1:p.Ser2360Thr
ENST00000679595.1:c.*2118T>A ENSP00000506241.1:n.*2118T>A
ENST00000679969.1:n.3674T>A
ENST00000680003.1:n.3410T>A
ENST00000680133.1:c.6964T>A ENSP00000505319.1:p.Ser2322Thr
ENST00000680218.1:c.6958T>A ENSP00000505339.1:p.Ser2320Thr
ENST00000680668.1:c.6964T>A ENSP00000506336.1:p.Ser2322Thr
ENST00000680778.1:c.4675T>A ENSP00000506033.1:p.Ser1559Thr
ENST00000680924.1:c.*4478T>A ENSP00000506031.1:n.*4478T>A
ENST00000681135.1:c.*4687T>A ENSP00000506636.1:n.*4687T>A
ENST00000681298.1:n.5183T>A
ENST00000681454.1:c.*6314T>A ENSP00000505763.1:n.*6314T>A
ENST00000277541.6:c.7078T>A ENSP00000277541.6:p.Ser2360Thr
NM_017617.3:c.7078T>A NP_060087.3:p.Ser2360Thr
XM_011518717.1:c.6379T>A XP_011517019.1:p.Ser2127Thr
NM_017617.5:c.7078T>A MANE Select NP_060087.3:p.Ser2360Thr
XM_011518717.2:c.6355T>A XP_011517019.2:p.Ser2119Thr