Canonical Allele Identifier: CA9263568

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 256122
• ClinVar RCV Id: RCV000250720 ; RCV000371430 ; RCV000870606
• dbSNP Id: rs79926127
• ExAC: 19:15298031 C / T
• gnomAD v2: 19-15298031-C-T
• gnomAD v3: 19-15187220-C-T
• gnomAD v4: 19-15187220-C-T
• MyVariant Identifiers: chr19:g.15298031C>T (hg19) ; chr19:g.15187220C>T (hg38)
• PubMed: PMID:24086431

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187220C>T , CM000681.2:g.15187220C>T	GRCh38
NC_000019.9:g.15298031C>T , CM000681.1:g.15298031C>T	GRCh37
NC_000019.8:g.15159031C>T	NCBI36
NG_009819.1:g.18762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1725G>A MANE Select	ENSP00000263388.1:p.Thr575=
ENST00000263388.6:c.1725G>A	ENSP00000263388.1:p.Thr575=
ENST00000601011.1:c.1722G>A	ENSP00000473138.1:p.Thr574=
NM_000435.2:c.1725G>A	NP_000426.2:p.Thr575=
XM_005259924.3:c.1725G>A	XP_005259981.1:p.Thr575=
XM_005259924.4:c.1725G>A	XP_005259981.1:p.Thr575=
NM_000435.3:c.1725G>A MANE Select	NP_000426.2:p.Thr575=