Canonical Allele Identifier: CA9263584

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 447794
• ClinVar RCV Id: RCV000517370 ; RCV001526580 ; RCV004537851 ; RCV000763037 ; RCV002252148
• 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

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