Canonical Allele Identifier: CA10619675
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 346852
ClinVar RCV Id: RCV000289305 RCV000293226 RCV000387331
dbSNP Id: rs886058916
gnomAD v3: 3-8746300-C-T
gnomAD v4: 3-8746300-C-T
MyVariant Identifiers: chr3:g.8787986C>T (hg19) chr3:g.8746300C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746300C>T , CM000665.2:g.8746300C>T GRCh38
NC_000003.11:g.8787986C>T , CM000665.1:g.8787986C>T GRCh37
NC_000003.10:g.8762986C>T NCBI36
NG_008797.2:g.17491C>T , LRG_329:g.17491C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*433C>T MANE Select ENSP00000341940.2:n.*433C>T
ENST00000343849.2:c.*433C>T ENSP00000341940.2:n.*433C>T
ENST00000397368.2:c.*337C>T ENSP00000380525.2:n.*337C>T
ENST00000472766.1:n.155+12310C>T
NM_001234.4:c.*337C>T NP_001225.1:n.*337C>T
NM_033337.2:c.*433C>T , LRG_329t1:c.*433C>T NP_203123.1:n.*433C>T
NM_001234.5:c.*337C>T NP_001225.1:n.*337C>T
NM_033337.3:c.*433C>T MANE Select NP_203123.1:n.*433C>T
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