Canonical Allele Identifier: CA340890

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 9225
• ClinVar RCV Id: RCV000009806 ; RCV000415016 ; RCV000516340 ; RCV003996082 ; RCV004532318
• dbSNP Id: rs137852642
• gnomAD v2: 19-15303053-G-A
• gnomAD v4: 19-15192242-G-A
• MyVariant Identifiers: chr19:g.15303053G>A (hg19) ; chr19:g.15192242G>A (hg38)
• PubMed: PMID:9388399 ; PMID:10227618 ; PMID:10371548 ; PMID:10854111 ; PMID:10969905 ; PMID:11486103 ; PMID:11715067 ; PMID:11755616 ; PMID:11771160 ; PMID:12810003 ; PMID:15350543 ; PMID:15364702 ; PMID:15378071 ; PMID:16009764 ; PMID:19417009 ; PMID:19825845 ; PMID:22019870 ; PMID:25604251 ; PMID:25819272 ; PMID:26261665

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192242G>A , CM000681.2:g.15192242G>A	GRCh38
NC_000019.9:g.15303053G>A , CM000681.1:g.15303053G>A	GRCh37
NC_000019.8:g.15164053G>A	NCBI36
NG_009819.1:g.13740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.397C>T MANE Select	ENSP00000263388.1:p.Arg133Cys
ENST00000263388.6:c.397C>T	ENSP00000263388.1:p.Arg133Cys
ENST00000601011.1:c.394C>T	ENSP00000473138.1:p.Arg132Cys
NM_000435.2:c.397C>T	NP_000426.2:p.Arg133Cys
XM_005259924.3:c.397C>T	XP_005259981.1:p.Arg133Cys
XM_005259924.4:c.397C>T	XP_005259981.1:p.Arg133Cys
NM_000435.3:c.397C>T MANE Select	NP_000426.2:p.Arg133Cys