Canonical Allele Identifier: CA1884231261
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497267C= , CM000671.2:g.136497267C= GRCh38
NC_000009.11:g.139391719C= , CM000671.1:g.139391719C= GRCh37
NC_000009.10:g.138511540C= NCBI36
NG_007458.1:g.53520G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6472G= MANE Select ENSP00000498587.1:p.Val2158=
ENST00000679595.1:c.*1512G= ENSP00000506241.1:n.*1512G=
ENST00000679969.1:n.3068G=
ENST00000680003.1:n.2804G=
ENST00000680133.1:c.6358G= ENSP00000505319.1:p.Val2120=
ENST00000680218.1:c.6352G= ENSP00000505339.1:p.Val2118=
ENST00000680668.1:c.6358G= ENSP00000506336.1:p.Val2120=
ENST00000680778.1:c.4069G= ENSP00000506033.1:p.Val1357=
ENST00000680924.1:c.*3872G= ENSP00000506031.1:n.*3872G=
ENST00000681135.1:c.*4081G= ENSP00000506636.1:n.*4081G=
ENST00000681298.1:n.4577G=
ENST00000681454.1:c.*5708G= ENSP00000505763.1:n.*5708G=
ENST00000277541.6:c.6472G= ENSP00000277541.6:p.Val2158=
NM_017617.3:c.6472G= NP_060087.3:p.Val2158=
XM_011518717.1:c.5773G= XP_011517019.1:p.Val1925=
NM_017617.5:c.6472G= MANE Select NP_060087.3:p.Val2158=
XM_011518717.2:c.5749G= XP_011517019.2:p.Val1917=