Canonical Allele Identifier: CA375631184
Gene: NOTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs2133317904

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497159A>T , CM000671.2:g.136497159A>T GRCh38
NC_000009.11:g.139391611A>T , CM000671.1:g.139391611A>T GRCh37
NC_000009.10:g.138511432A>T NCBI36
NG_007458.1:g.53628T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6580T>A MANE Select ENSP00000498587.1:p.Ser2194Thr
ENST00000679595.1:c.*1620T>A ENSP00000506241.1:n.*1620T>A
ENST00000679969.1:n.3176T>A
ENST00000680003.1:n.2912T>A
ENST00000680133.1:c.6466T>A ENSP00000505319.1:p.Ser2156Thr
ENST00000680218.1:c.6460T>A ENSP00000505339.1:p.Ser2154Thr
ENST00000680668.1:c.6466T>A ENSP00000506336.1:p.Ser2156Thr
ENST00000680778.1:c.4177T>A ENSP00000506033.1:p.Ser1393Thr
ENST00000680924.1:c.*3980T>A ENSP00000506031.1:n.*3980T>A
ENST00000681135.1:c.*4189T>A ENSP00000506636.1:n.*4189T>A
ENST00000681298.1:n.4685T>A
ENST00000681454.1:c.*5816T>A ENSP00000505763.1:n.*5816T>A
ENST00000277541.6:c.6580T>A ENSP00000277541.6:p.Ser2194Thr
NM_017617.3:c.6580T>A NP_060087.3:p.Ser2194Thr
XM_011518717.1:c.5881T>A XP_011517019.1:p.Ser1961Thr
NM_017617.5:c.6580T>A MANE Select NP_060087.3:p.Ser2194Thr
XM_011518717.2:c.5857T>A XP_011517019.2:p.Ser1953Thr