Canonical Allele Identifier: CA9263868

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 1955223
• ClinVar RCV Id: RCV002690532
• dbSNP Id: rs774607018
• ExAC: 19:15302944 C / T
• gnomAD v2: 19-15302944-C-T
• gnomAD v3: 19-15192133-C-T
• gnomAD v4: 19-15192133-C-T
• MyVariant Identifiers: chr19:g.15302944C>T (hg19) ; chr19:g.15192133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192133C>T , CM000681.2:g.15192133C>T	GRCh38
NC_000019.9:g.15302944C>T , CM000681.1:g.15302944C>T	GRCh37
NC_000019.8:g.15163944C>T	NCBI36
NG_009819.1:g.13849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.506G>A MANE Select	ENSP00000263388.1:p.Arg169His
ENST00000263388.6:c.506G>A	ENSP00000263388.1:p.Arg169His
ENST00000601011.1:c.503G>A	ENSP00000473138.1:p.Arg168His
NM_000435.2:c.506G>A	NP_000426.2:p.Arg169His
XM_005259924.3:c.506G>A	XP_005259981.1:p.Arg169His
XM_005259924.4:c.506G>A	XP_005259981.1:p.Arg169His
NM_000435.3:c.506G>A MANE Select	NP_000426.2:p.Arg169His