Canonical Allele Identifier: CA375645172
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464897
ClinVar RCV Id: RCV001979237
dbSNP Id: rs1418474023

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504935G>A , CM000671.2:g.136504935G>A GRCh38
NC_000009.11:g.139399387G>A , CM000671.1:g.139399387G>A GRCh37
NC_000009.10:g.138519208G>A NCBI36
NG_007458.1:g.45852C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.2563C>T
ENST00000651671.1:c.4756C>T MANE Select ENSP00000498587.1:p.Arg1586Cys
ENST00000679595.1:c.4756C>T ENSP00000506241.1:p.Arg1586Cys
ENST00000680133.1:c.4642C>T ENSP00000505319.1:p.Arg1548Cys
ENST00000680218.1:c.4636C>T ENSP00000505339.1:p.Arg1546Cys
ENST00000680668.1:c.4642C>T ENSP00000506336.1:p.Arg1548Cys
ENST00000680778.1:c.2353C>T ENSP00000506033.1:p.Arg785Cys
ENST00000680924.1:c.*2156C>T ENSP00000506031.1:n.*2156C>T
ENST00000681135.1:c.*2365C>T ENSP00000506636.1:n.*2365C>T
ENST00000681298.1:n.1569C>T
ENST00000681454.1:c.*3992C>T ENSP00000505763.1:n.*3992C>T
ENST00000277541.6:c.4756C>T ENSP00000277541.6:p.Arg1586Cys
NM_017617.3:c.4756C>T NP_060087.3:p.Arg1586Cys
XM_011518717.1:c.4057C>T XP_011517019.1:p.Arg1353Cys
NM_017617.5:c.4756C>T MANE Select NP_060087.3:p.Arg1586Cys
XM_011518717.2:c.4033C>T XP_011517019.2:p.Arg1345Cys