Canonical Allele Identifier: CA9263542

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 374637
• ClinVar RCV Id: RCV000415985 ; RCV000763036 ; RCV002221233
• dbSNP Id: rs777751303
• ExAC: 19:15297937 G / A
• gnomAD v2: 19-15297937-G-A
• gnomAD v3: 19-15187126-G-A
• gnomAD v4: 19-15187126-G-A
• MyVariant Identifiers: chr19:g.15297937G>A (hg19) ; chr19:g.15187126G>A (hg38)
• PubMed: PMID:11102981 ; PMID:12821764 ; PMID:15229130 ; PMID:15834039

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:c.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