Canonical Allele Identifier: CA9263542
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374637
dbSNP Id: rs777751303

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187126G>A , CM000681.2:g.15187126G>A GRCh38
NC_000019.9:g.15297937G>A , CM000681.1:g.15297937G>A GRCh37
NC_000019.8:g.15158937G>A NCBI36
NG_009819.1:g.18856C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1819C>T MANE Select ENSP00000263388.1:p.Arg607Cys
ENST00000263388.6:c.1819C>T ENSP00000263388.1:p.Arg607Cys
ENST00000601011.1:n.1816C>T ENSP00000473138.1:p.Arg606Cys
NM_000435.2:c.1819C>T NP_000426.2:p.Arg607Cys
XM_005259924.3:c.1819C>T XP_005259981.1:p.Arg607Cys
XM_005259924.4:c.1819C>T XP_005259981.1:p.Arg607Cys
NM_000435.3:c.1819C>T MANE Select NP_000426.2:p.Arg607Cys