Canonical Allele Identifier: CA215146
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31707
ClinVar RCV Id: RCV000024385 RCV000289056 RCV000341746 RCV000347204
dbSNP Id: rs10882
gnomAD v2: 3-8788364-C-G
gnomAD v3: 3-8746678-C-G
gnomAD v4: 3-8746678-C-G
MyVariant Identifiers: chr3:g.8788364C>G (hg19) chr3:g.8746678C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746678C>G , CM000665.2:g.8746678C>G GRCh38
NC_000003.11:g.8788364C>G , CM000665.1:g.8788364C>G GRCh37
NC_000003.10:g.8763364C>G NCBI36
NG_008797.2:g.17869C>G , LRG_329:g.17869C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*811C>G MANE Select ENSP00000341940.2:n.*811C>G
ENST00000343849.2:c.*811C>G ENSP00000341940.2:n.*811C>G
ENST00000397368.2:c.*715C>G ENSP00000380525.2:n.*715C>G
ENST00000472766.1:n.155+12688C>G
NM_001234.4:c.*715C>G NP_001225.1:n.*715C>G
NM_033337.2:c.*811C>G , LRG_329t1:c.*811C>G NP_203123.1:n.*811C>G
NM_001234.5:c.*715C>G NP_001225.1:n.*715C>G
NM_033337.3:c.*811C>G MANE Select NP_203123.1:n.*811C>G
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