Canonical Allele Identifier: CA9263595
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 546089
dbSNP Id: rs201118034

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187315G>A , CM000681.2:g.15187315G>A GRCh38
NC_000019.9:g.15298126G>A , CM000681.1:g.15298126G>A GRCh37
NC_000019.8:g.15159126G>A NCBI36
NG_009819.1:g.18667C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1630C>T MANE Select ENSP00000263388.1:p.Arg544Cys
ENST00000263388.6:c.1630C>T ENSP00000263388.1:p.Arg544Cys
ENST00000601011.1:c.1627C>T ENSP00000473138.1:p.Arg543Cys
NM_000435.2:c.1630C>T NP_000426.2:p.Arg544Cys
XM_005259924.3:c.1630C>T XP_005259981.1:p.Arg544Cys
XM_005259924.4:c.1630C>T XP_005259981.1:p.Arg544Cys
NM_000435.3:c.1630C>T MANE Select NP_000426.2:p.Arg544Cys