Canonical Allele Identifier: CA16620807
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419978
ClinVar RCV Id: RCV000485488
dbSNP Id: rs1064794216

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180217C>T , CM000681.2:g.15180217C>T GRCh38
NC_000019.9:g.15291028C>T , CM000681.1:g.15291028C>T GRCh37
NC_000019.8:g.15152028C>T NCBI36
NG_009819.1:g.25765G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.3182G>A MANE Select ENSP00000263388.1:p.Cys1061Tyr
ENST00000263388.6:c.3182G>A ENSP00000263388.1:p.Cys1061Tyr
ENST00000601011.1:c.3023G>A ENSP00000473138.1:p.Cys1008Tyr
NM_000435.2:c.3182G>A NP_000426.2:p.Cys1061Tyr
XM_005259924.3:c.3026G>A XP_005259981.1:p.Cys1009Tyr
XM_005259924.4:c.3026G>A XP_005259981.1:p.Cys1009Tyr
NM_000435.3:c.3182G>A MANE Select NP_000426.2:p.Cys1061Tyr