Canonical Allele Identifier: CA375563043
Gene: NOTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs2133368540

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136517821A>G , CM000671.2:g.136517821A>G GRCh38
NC_000009.11:g.139412273A>G , CM000671.1:g.139412273A>G GRCh37
NC_000009.10:g.138532094A>G NCBI36
NG_007458.1:g.32966T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.1372T>C MANE Select ENSP00000498587.1:p.Ser458Pro
ENST00000679595.1:c.1372T>C ENSP00000506241.1:p.Ser458Pro
ENST00000680133.1:c.1372T>C ENSP00000505319.1:p.Ser458Pro
ENST00000680218.1:c.1372T>C ENSP00000505339.1:p.Ser458Pro
ENST00000680668.1:c.1372T>C ENSP00000506336.1:p.Ser458Pro
ENST00000680924.1:c.1372T>C ENSP00000506031.1:p.Ser458Pro
ENST00000681135.1:c.1372T>C ENSP00000506636.1:p.Ser458Pro
ENST00000681454.1:c.*608T>C ENSP00000505763.1:n.*608T>C
ENST00000277541.6:c.1372T>C ENSP00000277541.6:p.Ser458Pro
NM_017617.3:c.1372T>C NP_060087.3:p.Ser458Pro
XM_011518717.1:c.673T>C XP_011517019.1:p.Ser225Pro
NM_017617.5:c.1372T>C MANE Select NP_060087.3:p.Ser458Pro
XM_011518717.2:c.649T>C XP_011517019.2:p.Ser217Pro