Canonical Allele Identifier: CA2324750042
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192201G= , CM000681.2:g.15192201G= GRCh38
NC_000019.9:g.15303012G= , CM000681.1:g.15303012G= GRCh37
NC_000019.8:g.15164012G= NCBI36
NG_009819.1:g.13781C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.438C= MANE Select ENSP00000263388.1:p.Cys146=
ENST00000263388.6:c.438C= ENSP00000263388.1:p.Cys146=
ENST00000601011.1:c.435C= ENSP00000473138.1:p.Cys145=
NM_000435.2:c.438C= NP_000426.2:p.Cys146=
XM_005259924.3:c.438C= XP_005259981.1:p.Cys146=
XM_005259924.4:c.438C= XP_005259981.1:p.Cys146=
NM_000435.3:c.438C= MANE Select NP_000426.2:p.Cys146=