Canonical Allele Identifier: CA404534145
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 447846
ClinVar RCV Id: RCV000518361 RCV001089753 RCV004537854 RCV002497000
dbSNP Id: rs1174625611
gnomAD v4: 19-15192218-G-A
MyVariant Identifiers: chr19:g.15303029G>A (hg19) chr19:g.15192218G>A (hg38)
PubMed: PMID:9388399 PMID:11757773 PMID:16580020 PMID:19576955 PMID:21737310
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192218G>A , CM000681.2:g.15192218G>A GRCh38
NC_000019.9:g.15303029G>A , CM000681.1:g.15303029G>A GRCh37
NC_000019.8:g.15164029G>A NCBI36
NG_009819.1:g.13764C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.421C>T MANE Select ENSP00000263388.1:p.Arg141Cys
ENST00000263388.6:c.421C>T ENSP00000263388.1:p.Arg141Cys
ENST00000601011.1:c.418C>T ENSP00000473138.1:p.Arg140Cys
NM_000435.2:c.421C>T NP_000426.2:p.Arg141Cys
XM_005259924.3:c.421C>T XP_005259981.1:p.Arg141Cys
XM_005259924.4:c.421C>T XP_005259981.1:p.Arg141Cys
NM_000435.3:c.421C>T MANE Select NP_000426.2:p.Arg141Cys
Search 100 bp 5'
Search 100 bp 3'