Canonical Allele Identifier: CA10617543
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 346851
dbSNP Id: rs184247243
gnomAD v2: 3-8787830-G-A
gnomAD v3: 3-8746144-G-A
gnomAD v4: 3-8746144-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746144G>A , CM000665.2:g.8746144G>A GRCh38
NC_000003.11:g.8787830G>A , CM000665.1:g.8787830G>A GRCh37
NC_000003.10:g.8762830G>A NCBI36
NG_008797.2:g.17335G>A , LRG_329:g.17335G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*277G>A MANE Select ENSP00000341940.2:n.*277G>A
ENST00000343849.2:c.*277G>A ENSP00000341940.2:n.*277G>A
ENST00000397368.2:c.*181G>A ENSP00000380525.2:n.*181G>A
ENST00000472766.1:n.155+12154G>A
NM_001234.4:c.*181G>A NP_001225.1:n.*181G>A
NM_033337.2:c.*277G>A , LRG_329t1:c.*277G>A NP_203123.1:n.*277G>A
NM_001234.5:c.*181G>A NP_001225.1:n.*181G>A
NM_033337.3:c.*277G>A MANE Select NP_203123.1:n.*277G>A