Canonical Allele Identifier: CA2324750049
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192209A= , CM000681.2:g.15192209A= GRCh38
NC_000019.9:g.15303020A= , CM000681.1:g.15303020A= GRCh37
NC_000019.8:g.15164020A= NCBI36
NG_009819.1:g.13773T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.430T= MANE Select ENSP00000263388.1:p.Cys144=
ENST00000263388.6:c.430T= ENSP00000263388.1:p.Cys144=
ENST00000601011.1:c.427T= ENSP00000473138.1:p.Cys143=
NM_000435.2:c.430T= NP_000426.2:p.Cys144=
XM_005259924.3:c.430T= XP_005259981.1:p.Cys144=
XM_005259924.4:c.430T= XP_005259981.1:p.Cys144=
NM_000435.3:c.430T= MANE Select NP_000426.2:p.Cys144=