Canonical Allele Identifier: CA2324750024
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192167C= , CM000681.2:g.15192167C= GRCh38
NC_000019.9:g.15302978C= , CM000681.1:g.15302978C= GRCh37
NC_000019.8:g.15163978C= NCBI36
NG_009819.1:g.13815G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.472G= MANE Select ENSP00000263388.1:p.Asp158=
ENST00000263388.6:c.472G= ENSP00000263388.1:p.Asp158=
ENST00000601011.1:c.469G= ENSP00000473138.1:p.Asp157=
NM_000435.2:c.472G= NP_000426.2:p.Asp158=
XM_005259924.3:c.472G= XP_005259981.1:p.Asp158=
XM_005259924.4:c.472G= XP_005259981.1:p.Asp158=
NM_000435.3:c.472G= MANE Select NP_000426.2:p.Asp158=