Canonical Allele Identifier: CA404534075

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 447849
• ClinVar RCV Id: RCV000518724 ; RCV000763040 ; RCV000999640
• dbSNP Id: rs1236699193
• gnomAD v2: 19-15303013-C-T
• gnomAD v4: 19-15192202-C-T
• MyVariant Identifiers: chr19:g.15303013C>T (hg19) ; chr19:g.15192202C>T (hg38)
• PubMed: PMID:12196662 ; PMID:12821756 ; PMID:15776792

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192202C>T , CM000681.2:g.15192202C>T	GRCh38
NC_000019.9:g.15303013C>T , CM000681.1:g.15303013C>T	GRCh37
NC_000019.8:g.15164013C>T	NCBI36
NG_009819.1:g.13780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.437G>A MANE Select	ENSP00000263388.1:p.Cys146Tyr
ENST00000263388.6:c.437G>A	ENSP00000263388.1:p.Cys146Tyr
ENST00000601011.1:c.434G>A	ENSP00000473138.1:p.Cys145Tyr
NM_000435.2:c.437G>A	NP_000426.2:p.Cys146Tyr
XM_005259924.3:c.437G>A	XP_005259981.1:p.Cys146Tyr
XM_005259924.4:c.437G>A	XP_005259981.1:p.Cys146Tyr
NM_000435.3:c.437G>A MANE Select	NP_000426.2:p.Cys146Tyr