Canonical Allele Identifier: CA9263584
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 447794
ClinVar RCV Id: RCV001526580 RCV002252148 RCV003419897
dbSNP Id: rs75068032
ExAC: 19:15298084 G / A
gnomAD v2: 19-15298084-G-A
gnomAD v3: 19-15187273-G-A
gnomAD v4: 19-15187273-G-A
MyVariant Identifiers: chr19:g.15298084G>A (hg19) chr19:g.15187273G>A (hg38)
PubMed: PMID:8878478 PMID:9388399 PMID:11102981 PMID:11755616 PMID:15364702 PMID:16009764 PMID:17122431 PMID:19174371 PMID:19359623 PMID:22218279 PMID:23584202 PMID:23844775 PMID:24086431 PMID:25344745 PMID:25929831 PMID:26646783
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187273G>A , CM000681.2:g.15187273G>A GRCh38
NC_000019.9:g.15298084G>A , CM000681.1:g.15298084G>A GRCh37
NC_000019.8:g.15159084G>A NCBI36
NG_009819.1:g.18709C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1672C>T MANE Select ENSP00000263388.1:p.Arg558Cys
ENST00000263388.6:c.1672C>T ENSP00000263388.1:p.Arg558Cys
ENST00000601011.1:c.1669C>T ENSP00000473138.1:p.Arg557Cys
NM_000435.2:c.1672C>T NP_000426.2:p.Arg558Cys
XM_005259924.3:c.1672C>T XP_005259981.1:p.Arg558Cys
XM_005259924.4:c.1672C>T XP_005259981.1:p.Arg558Cys
NM_000435.3:c.1672C>T MANE Select NP_000426.2:p.Arg558Cys
Search 100 bp 5'
Search 100 bp 3'