Canonical Allele Identifier: CA2580903166
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504680C= , CM000671.2:g.136504680C= GRCh38
NC_000009.11:g.139399132C= , CM000671.1:g.139399132C= GRCh37
NC_000009.10:g.138518953C= NCBI36
NG_007458.1:g.46107G=

Transcript Alleles

HGVS Amino-acid change
ENST00000645828.1:n.2818G=
ENST00000651671.1:c.5011G= MANE Select ENSP00000498587.1:p.Val1671=
ENST00000679595.1:c.5011G= ENSP00000506241.1:p.Val1671=
ENST00000680133.1:c.4897G= ENSP00000505319.1:p.Val1633=
ENST00000680218.1:c.4891G= ENSP00000505339.1:p.Val1631=
ENST00000680668.1:c.4897G= ENSP00000506336.1:p.Val1633=
ENST00000680778.1:c.2608G= ENSP00000506033.1:p.Val870=
ENST00000680924.1:c.*2411G= ENSP00000506031.1:n.*2411G=
ENST00000681135.1:c.*2620G= ENSP00000506636.1:n.*2620G=
ENST00000681298.1:n.1824G=
ENST00000681454.1:c.*4247G= ENSP00000505763.1:n.*4247G=
ENST00000277541.6:c.5011G= ENSP00000277541.6:p.Val1671=
ENST00000494783.1:n.166G=
NM_017617.3:c.5011G= NP_060087.3:p.Val1671=
XM_011518717.1:c.4312G= XP_011517019.1:p.Val1438=
NM_017617.5:c.5011G= MANE Select NP_060087.3:p.Val1671=
XM_011518717.2:c.4288G= XP_011517019.2:p.Val1430=