Canonical Allele Identifier: CA467833324
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136508238G>T , CM000671.2:g.136508238G>T GRCh38
NC_000009.11:g.139402690G>T , CM000671.1:g.139402690G>T GRCh37
NC_000009.10:g.138522511G>T NCBI36
NG_007458.1:g.42549C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.1126C>A
ENST00000651671.1:c.3319C>A MANE Select ENSP00000498587.1:p.Arg1107=
ENST00000679595.1:c.3319C>A ENSP00000506241.1:p.Arg1107=
ENST00000680133.1:c.3205C>A ENSP00000505319.1:p.Arg1069=
ENST00000680218.1:c.3319C>A ENSP00000505339.1:p.Arg1107=
ENST00000680668.1:c.3205C>A ENSP00000506336.1:p.Arg1069=
ENST00000680778.1:c.916C>A ENSP00000506033.1:p.Arg306=
ENST00000680924.1:c.*719C>A ENSP00000506031.1:n.*719C>A
ENST00000681135.1:c.*928C>A ENSP00000506636.1:n.*928C>A
ENST00000681298.1:n.132C>A
ENST00000681454.1:c.*2555C>A ENSP00000505763.1:n.*2555C>A
ENST00000277541.6:c.3319C>A ENSP00000277541.6:p.Arg1107=
NM_017617.3:c.3319C>A NP_060087.3:p.Arg1107=
XM_011518717.1:c.2620C>A XP_011517019.1:p.Arg874=
NM_017617.5:c.3319C>A MANE Select NP_060087.3:p.Arg1107=
XM_011518717.2:c.2596C>A XP_011517019.2:p.Arg866=