Canonical Allele Identifier: CA5341825
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 662631
ClinVar RCV Id: RCV000820315
dbSNP Id: rs573153379

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136517824C>T , CM000671.2:g.136517824C>T GRCh38
NC_000009.11:g.139412276C>T , CM000671.1:g.139412276C>T GRCh37
NC_000009.10:g.138532097C>T NCBI36
NG_007458.1:g.32963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.1369G>A MANE Select ENSP00000498587.1:p.Val457Ile
ENST00000679595.1:c.1369G>A ENSP00000506241.1:p.Val457Ile
ENST00000680133.1:c.1369G>A ENSP00000505319.1:p.Val457Ile
ENST00000680218.1:c.1369G>A ENSP00000505339.1:p.Val457Ile
ENST00000680668.1:c.1369G>A ENSP00000506336.1:p.Val457Ile
ENST00000680924.1:c.1369G>A ENSP00000506031.1:p.Val457Ile
ENST00000681135.1:c.1369G>A ENSP00000506636.1:p.Val457Ile
ENST00000681454.1:c.*605G>A ENSP00000505763.1:n.*605G>A
ENST00000277541.6:c.1369G>A ENSP00000277541.6:p.Val457Ile
NM_017617.3:c.1369G>A NP_060087.3:p.Val457Ile
XM_011518717.1:c.670G>A XP_011517019.1:p.Val224Ile
NM_017617.5:c.1369G>A MANE Select NP_060087.3:p.Val457Ile
XM_011518717.2:c.646G>A XP_011517019.2:p.Val216Ile