Canonical Allele Identifier: CA1884231337
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497332G= , CM000671.2:g.136497332G= GRCh38
NC_000009.11:g.139391784G= , CM000671.1:g.139391784G= GRCh37
NC_000009.10:g.138511605G= NCBI36
NG_007458.1:g.53455C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6407C= MANE Select ENSP00000498587.1:p.Ser2136=
ENST00000679595.1:c.*1447C= ENSP00000506241.1:n.*1447C=
ENST00000679969.1:n.3003C=
ENST00000680003.1:n.2739C=
ENST00000680133.1:c.6293C= ENSP00000505319.1:p.Ser2098=
ENST00000680218.1:c.6287C= ENSP00000505339.1:p.Ser2096=
ENST00000680668.1:c.6293C= ENSP00000506336.1:p.Ser2098=
ENST00000680778.1:c.4004C= ENSP00000506033.1:p.Ser1335=
ENST00000680924.1:c.*3807C= ENSP00000506031.1:n.*3807C=
ENST00000681135.1:c.*4016C= ENSP00000506636.1:n.*4016C=
ENST00000681298.1:n.4512C=
ENST00000681454.1:c.*5643C= ENSP00000505763.1:n.*5643C=
ENST00000277541.6:c.6407C= ENSP00000277541.6:p.Ser2136=
NM_017617.3:c.6407C= NP_060087.3:p.Ser2136=
XM_011518717.1:c.5708C= XP_011517019.1:p.Ser1903=
NM_017617.5:c.6407C= MANE Select NP_060087.3:p.Ser2136=
XM_011518717.2:c.5684C= XP_011517019.2:p.Ser1895=