Canonical Allele Identifier: CA2324744273
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180176C= , CM000681.2:g.15180176C= GRCh38
NC_000019.9:g.15290987C= , CM000681.1:g.15290987C= GRCh37
NC_000019.8:g.15151987C= NCBI36
NG_009819.1:g.25806G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3223G= MANE Select ENSP00000263388.1:p.Gly1075=
ENST00000263388.6:c.3223G= ENSP00000263388.1:p.Gly1075=
ENST00000601011.1:c.3064G= ENSP00000473138.1:p.Gly1022=
NM_000435.2:c.3223G= NP_000426.2:p.Gly1075=
XM_005259924.3:c.3067G= XP_005259981.1:p.Gly1023=
XM_005259924.4:c.3067G= XP_005259981.1:p.Gly1023=
NM_000435.3:c.3223G= MANE Select NP_000426.2:p.Gly1075=