Canonical Allele Identifier: CA1884231211
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497219T= , CM000671.2:g.136497219T= GRCh38
NC_000009.11:g.139391671T= , CM000671.1:g.139391671T= GRCh37
NC_000009.10:g.138511492T= NCBI36
NG_007458.1:g.53568A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6520A= MANE Select ENSP00000498587.1:p.Lys2174=
ENST00000679595.1:c.*1560A= ENSP00000506241.1:n.*1560A=
ENST00000679969.1:n.3116A=
ENST00000680003.1:n.2852A=
ENST00000680133.1:c.6406A= ENSP00000505319.1:p.Lys2136=
ENST00000680218.1:c.6400A= ENSP00000505339.1:p.Lys2134=
ENST00000680668.1:c.6406A= ENSP00000506336.1:p.Lys2136=
ENST00000680778.1:c.4117A= ENSP00000506033.1:p.Lys1373=
ENST00000680924.1:c.*3920A= ENSP00000506031.1:n.*3920A=
ENST00000681135.1:c.*4129A= ENSP00000506636.1:n.*4129A=
ENST00000681298.1:n.4625A=
ENST00000681454.1:c.*5756A= ENSP00000505763.1:n.*5756A=
ENST00000277541.6:c.6520A= ENSP00000277541.6:p.Lys2174=
NM_017617.3:c.6520A= NP_060087.3:p.Lys2174=
XM_011518717.1:c.5821A= XP_011517019.1:p.Lys1941=
NM_017617.5:c.6520A= MANE Select NP_060087.3:p.Lys2174=
XM_011518717.2:c.5797A= XP_011517019.2:p.Lys1933=