Canonical Allele Identifier: CA9263344
Gene: NOTCH3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 256129
dbSNP Id: rs1043996

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184323G>A , CM000681.2:g.15184323G>A GRCh38
NC_000019.9:g.15295134G>A , CM000681.1:g.15295134G>A GRCh37
NC_000019.8:g.15156134G>A NCBI36
NG_009819.1:g.21659C>T

Transcript Alleles

HGVS Amino-acid change
NM_000435.2:c.2538C>T VV NP_000426.2:p.Cys846=
XM_005259924.3:c.2410+583C>T XP_005259981.1:p.=
XM_005259924.4:c.2410+583C>T
ENST00000263388.6:c.2538C>T ENSP00000263388.1:p.Cys846=
ENST00000601011.1:n.2407+583C>T ENSP00000473138.1:p.=