Canonical Allele Identifier: CA9263858
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3025374
ClinVar RCV Id: RCV003886250
dbSNP Id: rs375682932
ExAC: 19:15302858 C / T
gnomAD v2: 19-15302858-C-T
gnomAD v3: 19-15192047-C-T
gnomAD v4: 19-15192047-C-T
MyVariant Identifiers: chr19:g.15302858C>T (hg19) chr19:g.15192047C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192047C>T , CM000681.2:g.15192047C>T GRCh38
NC_000019.9:g.15302858C>T , CM000681.1:g.15302858C>T GRCh37
NC_000019.8:g.15163858C>T NCBI36
NG_009819.1:g.13935G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.592G>A MANE Select ENSP00000263388.1:p.Ala198Thr
ENST00000263388.6:c.592G>A ENSP00000263388.1:p.Ala198Thr
ENST00000601011.1:c.589G>A ENSP00000473138.1:p.Ala197Thr
NM_000435.2:c.592G>A NP_000426.2:p.Ala198Thr
XM_005259924.3:c.592G>A XP_005259981.1:p.Ala198Thr
XM_005259924.4:c.592G>A XP_005259981.1:p.Ala198Thr
NM_000435.3:c.592G>A MANE Select NP_000426.2:p.Ala198Thr
Search 100 bp 5'
Search 100 bp 3'