Canonical Allele Identifier: CA375563307
Gene: NOTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs2133368817

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136517881A>T , CM000671.2:g.136517881A>T GRCh38
NC_000009.11:g.139412333A>T , CM000671.1:g.139412333A>T GRCh37
NC_000009.10:g.138532154A>T NCBI36
NG_007458.1:g.32906T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.1312T>A MANE Select ENSP00000498587.1:p.Cys438Ser
ENST00000679595.1:c.1312T>A ENSP00000506241.1:p.Cys438Ser
ENST00000680133.1:c.1312T>A ENSP00000505319.1:p.Cys438Ser
ENST00000680218.1:c.1312T>A ENSP00000505339.1:p.Cys438Ser
ENST00000680668.1:c.1312T>A ENSP00000506336.1:p.Cys438Ser
ENST00000680924.1:c.1312T>A ENSP00000506031.1:p.Cys438Ser
ENST00000681135.1:c.1312T>A ENSP00000506636.1:p.Cys438Ser
ENST00000681454.1:c.*548T>A ENSP00000505763.1:n.*548T>A
ENST00000277541.6:c.1312T>A ENSP00000277541.6:p.Cys438Ser
NM_017617.3:c.1312T>A NP_060087.3:p.Cys438Ser
XM_011518717.1:c.613T>A XP_011517019.1:p.Cys205Ser
NM_017617.5:c.1312T>A MANE Select NP_060087.3:p.Cys438Ser
XM_011518717.2:c.589T>A XP_011517019.2:p.Cys197Ser