Canonical Allele Identifier: CA10619680
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 346860
ClinVar RCV Id: RCV000260095 RCV000265868 RCV000317046 RCV002222491
dbSNP Id: rs186579720
gnomAD v2: 3-8788358-C-A
gnomAD v3: 3-8746672-C-A
gnomAD v4: 3-8746672-C-A
MyVariant Identifiers: chr3:g.8788358C>A (hg19) chr3:g.8746672C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746672C>A , CM000665.2:g.8746672C>A GRCh38
NC_000003.11:g.8788358C>A , CM000665.1:g.8788358C>A GRCh37
NC_000003.10:g.8763358C>A NCBI36
NG_008797.2:g.17863C>A , LRG_329:g.17863C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*805C>A MANE Select ENSP00000341940.2:n.*805C>A
ENST00000343849.2:c.*805C>A ENSP00000341940.2:n.*805C>A
ENST00000397368.2:c.*709C>A ENSP00000380525.2:n.*709C>A
ENST00000472766.1:n.155+12682C>A
NM_001234.4:c.*709C>A NP_001225.1:n.*709C>A
NM_033337.2:c.*805C>A , LRG_329t1:c.*805C>A NP_203123.1:n.*805C>A
NM_001234.5:c.*709C>A NP_001225.1:n.*709C>A
NM_033337.3:c.*805C>A MANE Select NP_203123.1:n.*805C>A
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