Canonical Allele Identifier: CA375645082
Gene: NOTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs1172278904

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504920G>T , CM000671.2:g.136504920G>T GRCh38
NC_000009.11:g.139399372G>T , CM000671.1:g.139399372G>T GRCh37
NC_000009.10:g.138519193G>T NCBI36
NG_007458.1:g.45867C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.2578C>A
ENST00000651671.1:c.4771C>A MANE Select ENSP00000498587.1:p.His1591Asn
ENST00000679595.1:c.4771C>A ENSP00000506241.1:p.His1591Asn
ENST00000680133.1:c.4657C>A ENSP00000505319.1:p.His1553Asn
ENST00000680218.1:c.4651C>A ENSP00000505339.1:p.His1551Asn
ENST00000680668.1:c.4657C>A ENSP00000506336.1:p.His1553Asn
ENST00000680778.1:c.2368C>A ENSP00000506033.1:p.His790Asn
ENST00000680924.1:c.*2171C>A ENSP00000506031.1:n.*2171C>A
ENST00000681135.1:c.*2380C>A ENSP00000506636.1:n.*2380C>A
ENST00000681298.1:n.1584C>A
ENST00000681454.1:c.*4007C>A ENSP00000505763.1:n.*4007C>A
ENST00000277541.6:c.4771C>A ENSP00000277541.6:p.His1591Asn
NM_017617.3:c.4771C>A NP_060087.3:p.His1591Asn
XM_011518717.1:c.4072C>A XP_011517019.1:p.His1358Asn
NM_017617.5:c.4771C>A MANE Select NP_060087.3:p.His1591Asn
XM_011518717.2:c.4048C>A XP_011517019.2:p.His1350Asn