Canonical Allele Identifier: CA2324749990
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192091C= , CM000681.2:g.15192091C= GRCh38
NC_000019.9:g.15302902C= , CM000681.1:g.15302902C= GRCh37
NC_000019.8:g.15163902C= NCBI36
NG_009819.1:g.13891G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.548G= MANE Select ENSP00000263388.1:p.Cys183=
ENST00000263388.6:c.548G= ENSP00000263388.1:p.Cys183=
ENST00000601011.1:c.545G= ENSP00000473138.1:p.Cys182=
NM_000435.2:c.548G= NP_000426.2:p.Cys183=
XM_005259924.3:c.548G= XP_005259981.1:p.Cys183=
XM_005259924.4:c.548G= XP_005259981.1:p.Cys183=
NM_000435.3:c.548G= MANE Select NP_000426.2:p.Cys183=