Canonical Allele Identifier: CA9263848

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 447862
• ClinVar RCV Id: RCV000517748 ; RCV001374652 ; RCV003330087 ; RCV000763039
• dbSNP Id: rs775267348
• ExAC: 19:15302831 G / A
• gnomAD v2: 19-15302831-G-A
• gnomAD v3: 19-15192020-G-A
• gnomAD v4: 19-15192020-G-A
• MyVariant Identifiers: chr19:g.15302831G>A (hg19) ; chr19:g.15192020G>A (hg38)
• PubMed: PMID:10371548 ; PMID:11102981 ; PMID:15229130 ; PMID:15834039

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192020G>A , CM000681.2:g.15192020G>A	GRCh38
NC_000019.9:g.15302831G>A , CM000681.1:g.15302831G>A	GRCh37
NC_000019.8:g.15163831G>A	NCBI36
NG_009819.1:g.13962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.619C>T MANE Select	ENSP00000263388.1:p.Arg207Cys
ENST00000263388.6:c.619C>T	ENSP00000263388.1:p.Arg207Cys
ENST00000601011.1:c.616C>T	ENSP00000473138.1:p.Arg206Cys
NM_000435.2:c.619C>T	NP_000426.2:p.Arg207Cys
XM_005259924.3:c.619C>T	XP_005259981.1:p.Arg207Cys
XM_005259924.4:c.619C>T	XP_005259981.1:p.Arg207Cys
NM_000435.3:c.619C>T MANE Select	NP_000426.2:p.Arg207Cys