Canonical Allele Identifier: CA375644105
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2012405
ClinVar RCV Id: RCV002843092

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504703C>A , CM000671.2:g.136504703C>A GRCh38
NC_000009.11:g.139399155C>A , CM000671.1:g.139399155C>A GRCh37
NC_000009.10:g.138518976C>A NCBI36
NG_007458.1:g.46084G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.2795G>T
ENST00000651671.1:c.4988G>T MANE Select ENSP00000498587.1:p.Arg1663Leu
ENST00000679595.1:c.4988G>T ENSP00000506241.1:p.Arg1663Leu
ENST00000680133.1:c.4874G>T ENSP00000505319.1:p.Arg1625Leu
ENST00000680218.1:c.4868G>T ENSP00000505339.1:p.Arg1623Leu
ENST00000680668.1:c.4874G>T ENSP00000506336.1:p.Arg1625Leu
ENST00000680778.1:c.2585G>T ENSP00000506033.1:p.Arg862Leu
ENST00000680924.1:c.*2388G>T ENSP00000506031.1:n.*2388G>T
ENST00000681135.1:c.*2597G>T ENSP00000506636.1:n.*2597G>T
ENST00000681298.1:n.1801G>T
ENST00000681454.1:c.*4224G>T ENSP00000505763.1:n.*4224G>T
ENST00000277541.6:c.4988G>T ENSP00000277541.6:p.Arg1663Leu
ENST00000494783.1:n.143G>T
NM_017617.3:c.4988G>T NP_060087.3:p.Arg1663Leu
XM_011518717.1:c.4289G>T XP_011517019.1:p.Arg1430Leu
NM_017617.5:c.4988G>T MANE Select NP_060087.3:p.Arg1663Leu
XM_011518717.2:c.4265G>T XP_011517019.2:p.Arg1422Leu