Canonical Allele Identifier: CA340884

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 9219
• ClinVar RCV Id: RCV000009800 ; RCV000518159 ; RCV001003548 ; RCV002482849 ; RCV004532317
• dbSNP Id: rs28933696
• gnomAD v4: 19-15192134-G-A
• MyVariant Identifiers: chr19:g.15302945G>A (hg19) ; chr19:g.15192134G>A (hg38)
• PubMed: PMID:8878478 ; PMID:9388399 ; PMID:15229130 ; PMID:15857853 ; PMID:20071773 ; PMID:24425116 ; PMID:24886907

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192134G>A , CM000681.2:g.15192134G>A	GRCh38
NC_000019.9:g.15302945G>A , CM000681.1:g.15302945G>A	GRCh37
NC_000019.8:g.15163945G>A	NCBI36
NG_009819.1:g.13848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.505C>T MANE Select	ENSP00000263388.1:p.Arg169Cys
ENST00000263388.6:c.505C>T	ENSP00000263388.1:p.Arg169Cys
ENST00000601011.1:c.502C>T	ENSP00000473138.1:p.Arg168Cys
NM_000435.2:c.505C>T	NP_000426.2:p.Arg169Cys
XM_005259924.3:c.505C>T	XP_005259981.1:p.Arg169Cys
XM_005259924.4:c.505C>T	XP_005259981.1:p.Arg169Cys
NM_000435.3:c.505C>T MANE Select	NP_000426.2:p.Arg169Cys