Canonical Allele Identifier: CA404534075
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 447849
ClinVar RCV Id: RCV000518724 RCV000763040 RCV000999640
dbSNP Id: rs1236699193
gnomAD v2: 19-15303013-C-T
gnomAD v4: 19-15192202-C-T
MyVariant Identifiers: chr19:g.15303013C>T (hg19) chr19:g.15192202C>T (hg38)
PubMed: PMID:12196662 PMID:12821756 PMID:15776792
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192202C>T , CM000681.2:g.15192202C>T GRCh38
NC_000019.9:g.15303013C>T , CM000681.1:g.15303013C>T GRCh37
NC_000019.8:g.15164013C>T NCBI36
NG_009819.1:g.13780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.437G>A MANE Select ENSP00000263388.1:p.Cys146Tyr
ENST00000263388.6:c.437G>A ENSP00000263388.1:p.Cys146Tyr
ENST00000601011.1:c.434G>A ENSP00000473138.1:p.Cys145Tyr
NM_000435.2:c.437G>A NP_000426.2:p.Cys146Tyr
XM_005259924.3:c.437G>A XP_005259981.1:p.Cys146Tyr
XM_005259924.4:c.437G>A XP_005259981.1:p.Cys146Tyr
NM_000435.3:c.437G>A MANE Select NP_000426.2:p.Cys146Tyr
Search 100 bp 5'
Search 100 bp 3'