Canonical Allele Identifier: CA346917
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 208501
ClinVar RCV Id: RCV001554929
dbSNP Id: rs797045014
gnomAD v4: 19-15192182-G-A
MyVariant Identifiers: chr19:g.15302993G>A (hg19) chr19:g.15192182G>A (hg38)
PubMed: PMID:9388399 PMID:20301673
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192182G>A , CM000681.2:g.15192182G>A GRCh38
NC_000019.9:g.15302993G>A , CM000681.1:g.15302993G>A GRCh37
NC_000019.8:g.15163993G>A NCBI36
NG_009819.1:g.13800C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.457C>T MANE Select ENSP00000263388.1:p.Arg153Cys
ENST00000263388.6:c.457C>T ENSP00000263388.1:p.Arg153Cys
ENST00000601011.1:c.454C>T ENSP00000473138.1:p.Arg152Cys
NM_000435.2:c.457C>T NP_000426.2:p.Arg153Cys
XM_005259924.3:c.457C>T XP_005259981.1:p.Arg153Cys
XM_005259924.4:c.457C>T XP_005259981.1:p.Arg153Cys
NM_000435.3:c.457C>T MANE Select NP_000426.2:p.Arg153Cys
Search 100 bp 5'
Search 100 bp 3'