Canonical Allele Identifier: CA231745
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 132978
ClinVar RCV Id: RCV000119382
dbSNP Id: rs72546668
gnomAD v2: 3-8787330-C-A
gnomAD v4: 3-8745644-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745644C>A , CM000665.2:g.8745644C>A GRCh38
NC_000003.11:g.8787330C>A , CM000665.1:g.8787330C>A GRCh37
NC_000003.10:g.8762330C>A NCBI36
NG_008797.2:g.16835C>A , LRG_329:g.16835C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.233C>A MANE Select ENSP00000341940.2:p.Thr78Lys
ENST00000343849.2:c.233C>A ENSP00000341940.2:p.Thr78Lys
ENST00000397368.2:c.233C>A ENSP00000380525.2:p.Thr78Lys
ENST00000472766.1:n.155+11654C>A
NM_001234.4:c.233C>A NP_001225.1:p.Thr78Lys
NM_033337.2:c.233C>A , LRG_329t1:c.233C>A NP_203123.1:p.Thr78Lys
NM_001234.5:c.233C>A NP_001225.1:p.Thr78Lys
NM_033337.3:c.233C>A MANE Select NP_203123.1:p.Thr78Lys