Canonical Allele Identifier: CA184483
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 136659
dbSNP Id: rs201593267
gnomAD v2: 3-8787298-C-A
gnomAD v3: 3-8745612-C-A
gnomAD v4: 3-8745612-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745612C>A , CM000665.2:g.8745612C>A GRCh38
NC_000003.11:g.8787298C>A , CM000665.1:g.8787298C>A GRCh37
NC_000003.10:g.8762298C>A NCBI36
NG_008797.2:g.16803C>A , LRG_329:g.16803C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.201C>A MANE Select ENSP00000341940.2:p.Val67=
ENST00000343849.2:c.201C>A ENSP00000341940.2:p.Val67=
ENST00000397368.2:c.201C>A ENSP00000380525.2:p.Val67=
ENST00000472766.1:n.155+11622C>A
NM_001234.4:c.201C>A NP_001225.1:p.Val67=
NM_033337.2:c.201C>A , LRG_329t1:c.201C>A NP_203123.1:p.Val67=
NM_001234.5:c.201C>A NP_001225.1:p.Val67=
NM_033337.3:c.201C>A MANE Select NP_203123.1:p.Val67=