Canonical Allele Identifier: CA404513034
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 447832
ClinVar RCV Id: RCV000763035 RCV000517796 RCV002508219
dbSNP Id: rs1555727841
gnomAD v4: 19-15180103-C-T
MyVariant Identifiers: chr19:g.15290914C>T (hg19) chr19:g.15180103C>T (hg38)
PubMed: PMID:17879447
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180103C>T , CM000681.2:g.15180103C>T GRCh38
NC_000019.9:g.15290914C>T , CM000681.1:g.15290914C>T GRCh37
NC_000019.8:g.15151914C>T NCBI36
NG_009819.1:g.25879G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3296G>A MANE Select ENSP00000263388.1:p.Cys1099Tyr
ENST00000263388.6:c.3296G>A ENSP00000263388.1:p.Cys1099Tyr
ENST00000601011.1:c.3137G>A ENSP00000473138.1:p.Cys1046Tyr
NM_000435.2:c.3296G>A NP_000426.2:p.Cys1099Tyr
XM_005259924.3:c.3140G>A XP_005259981.1:p.Cys1047Tyr
XM_005259924.4:c.3140G>A XP_005259981.1:p.Cys1047Tyr
NM_000435.3:c.3296G>A MANE Select NP_000426.2:p.Cys1099Tyr
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