Canonical Allele Identifier: CA404533226
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 447864
ClinVar RCV Id: RCV000517695
dbSNP Id: rs1555729455
gnomAD v4: 19-15192005-A-T
MyVariant Identifiers: chr19:g.15302816A>T (hg19) chr19:g.15192005A>T (hg38)
PubMed: PMID:9388399 PMID:10854111 PMID:11102981 PMID:11755616 PMID:14714274 PMID:15857853 PMID:18273901 PMID:21217157
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192005A>T , CM000681.2:g.15192005A>T GRCh38
NC_000019.9:g.15302816A>T , CM000681.1:g.15302816A>T GRCh37
NC_000019.8:g.15163816A>T NCBI36
NG_009819.1:g.13977T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.634T>A MANE Select ENSP00000263388.1:p.Cys212Ser
ENST00000263388.6:c.634T>A ENSP00000263388.1:p.Cys212Ser
ENST00000601011.1:c.631T>A ENSP00000473138.1:p.Cys211Ser
NM_000435.2:c.634T>A NP_000426.2:p.Cys212Ser
XM_005259924.3:c.634T>A XP_005259981.1:p.Cys212Ser
XM_005259924.4:c.634T>A XP_005259981.1:p.Cys212Ser
NM_000435.3:c.634T>A MANE Select NP_000426.2:p.Cys212Ser
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