Canonical Allele Identifier: CA1884231209
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497218T= , CM000671.2:g.136497218T= GRCh38
NC_000009.11:g.139391670T= , CM000671.1:g.139391670T= GRCh37
NC_000009.10:g.138511491T= NCBI36
NG_007458.1:g.53569A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6521A= MANE Select ENSP00000498587.1:p.Lys2174=
ENST00000679595.1:c.*1561A= ENSP00000506241.1:n.*1561A=
ENST00000679969.1:n.3117A=
ENST00000680003.1:n.2853A=
ENST00000680133.1:c.6407A= ENSP00000505319.1:p.Lys2136=
ENST00000680218.1:c.6401A= ENSP00000505339.1:p.Lys2134=
ENST00000680668.1:c.6407A= ENSP00000506336.1:p.Lys2136=
ENST00000680778.1:c.4118A= ENSP00000506033.1:p.Lys1373=
ENST00000680924.1:c.*3921A= ENSP00000506031.1:n.*3921A=
ENST00000681135.1:c.*4130A= ENSP00000506636.1:n.*4130A=
ENST00000681298.1:n.4626A=
ENST00000681454.1:c.*5757A= ENSP00000505763.1:n.*5757A=
ENST00000277541.6:c.6521A= ENSP00000277541.6:p.Lys2174=
NM_017617.3:c.6521A= NP_060087.3:p.Lys2174=
XM_011518717.1:c.5822A= XP_011517019.1:p.Lys1941=
NM_017617.5:c.6521A= MANE Select NP_060087.3:p.Lys2174=
XM_011518717.2:c.5798A= XP_011517019.2:p.Lys1933=