Canonical Allele Identifier: CA69870895
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 900586
ClinVar RCV Id: RCV001145929 RCV001644922
dbSNP Id: rs1052106103
gnomAD v3: 3-8745953-G-A
gnomAD v4: 3-8745953-G-A
MyVariant Identifiers: chr3:g.8787639G>A (hg19) chr3:g.8745953G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745953G>A , CM000665.2:g.8745953G>A GRCh38
NC_000003.11:g.8787639G>A , CM000665.1:g.8787639G>A GRCh37
NC_000003.10:g.8762639G>A NCBI36
NG_008797.2:g.17144G>A , LRG_329:g.17144G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*86G>A MANE Select ENSP00000341940.2:n.*86G>A
ENST00000343849.2:c.*86G>A ENSP00000341940.2:n.*86G>A
ENST00000397368.2:c.*7-17G>A ENSP00000380525.2:n.*7-17G>A
ENST00000472766.1:n.155+11963G>A
NM_001234.4:c.*7-17G>A NP_001225.1:n.*7-17G>A
NM_033337.2:c.*86G>A , LRG_329t1:c.*86G>A NP_203123.1:n.*86G>A
NM_001234.5:c.*7-17G>A NP_001225.1:n.*7-17G>A
NM_033337.3:c.*86G>A MANE Select NP_203123.1:n.*86G>A
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