Canonical Allele Identifier: CA2324750047
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192207G= , CM000681.2:g.15192207G= GRCh38
NC_000019.9:g.15303018G= , CM000681.1:g.15303018G= GRCh37
NC_000019.8:g.15164018G= NCBI36
NG_009819.1:g.13775C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.432C= MANE Select ENSP00000263388.1:p.Cys144=
ENST00000263388.6:c.432C= ENSP00000263388.1:p.Cys144=
ENST00000601011.1:c.429C= ENSP00000473138.1:p.Cys143=
NM_000435.2:c.432C= NP_000426.2:p.Cys144=
XM_005259924.3:c.432C= XP_005259981.1:p.Cys144=
XM_005259924.4:c.432C= XP_005259981.1:p.Cys144=
NM_000435.3:c.432C= MANE Select NP_000426.2:p.Cys144=