Canonical Allele Identifier: CA305774678
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 995040
ClinVar RCV Id: RCV001288879
dbSNP Id: rs747633377
gnomAD v2: 19-15297767-C-T
gnomAD v3: 19-15186956-C-T
gnomAD v4: 19-15186956-C-T
COSMIC: COSM5977630 COSM5977631
MyVariant Identifiers: chr19:g.15297767C>T (hg19) chr19:g.15186956C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186956C>T , CM000681.2:g.15186956C>T GRCh38
NC_000019.9:g.15297767C>T , CM000681.1:g.15297767C>T GRCh37
NC_000019.8:g.15158767C>T NCBI36
NG_009819.1:g.19026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1873G>A MANE Select ENSP00000263388.1:p.Ala625Thr
ENST00000263388.6:c.1873G>A ENSP00000263388.1:p.Ala625Thr
ENST00000601011.1:c.1870G>A ENSP00000473138.1:p.Ala624Thr
NM_000435.2:c.1873G>A NP_000426.2:p.Ala625Thr
XM_005259924.3:c.1873G>A XP_005259981.1:p.Ala625Thr
XM_005259924.4:c.1873G>A XP_005259981.1:p.Ala625Thr
NM_000435.3:c.1873G>A MANE Select NP_000426.2:p.Ala625Thr
Search 100 bp 5'
Search 100 bp 3'