Canonical Allele Identifier: CA9263877

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 447851
• ClinVar RCV Id: RCV000518641 ; RCV002527501 ; RCV001253585
• dbSNP Id: rs544773641
• ExAC: 19:15302978 C / T
• gnomAD v2: 19-15302978-C-T
• gnomAD v3: 19-15192167-C-T
• gnomAD v4: 19-15192167-C-T
• MyVariant Identifiers: chr19:g.15302978C>T (hg19) ; chr19:g.15192167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192167C>T , CM000681.2:g.15192167C>T	GRCh38
NC_000019.9:g.15302978C>T , CM000681.1:g.15302978C>T	GRCh37
NC_000019.8:g.15163978C>T	NCBI36
NG_009819.1:g.13815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.472G>A MANE Select	ENSP00000263388.1:p.Asp158Asn
ENST00000263388.6:c.472G>A	ENSP00000263388.1:p.Asp158Asn
ENST00000601011.1:c.469G>A	ENSP00000473138.1:p.Asp157Asn
NM_000435.2:c.472G>A	NP_000426.2:p.Asp158Asn
XM_005259924.3:c.472G>A	XP_005259981.1:p.Asp158Asn
XM_005259924.4:c.472G>A	XP_005259981.1:p.Asp158Asn
NM_000435.3:c.472G>A MANE Select	NP_000426.2:p.Asp158Asn