Canonical Allele Identifier: CA175393
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8279
dbSNP Id: rs116840776
gnomAD v2: 3-8787313-C-G
gnomAD v3: 3-8745627-C-G
gnomAD v4: 3-8745627-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745627C>G , CM000665.2:g.8745627C>G GRCh38
NC_000003.11:g.8787313C>G , CM000665.1:g.8787313C>G GRCh37
NC_000003.10:g.8762313C>G NCBI36
NG_008797.2:g.16818C>G , LRG_329:g.16818C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.216C>G MANE Select ENSP00000341940.2:p.Cys72Trp
ENST00000343849.2:c.216C>G ENSP00000341940.2:p.Cys72Trp
ENST00000397368.2:c.216C>G ENSP00000380525.2:p.Cys72Trp
ENST00000472766.1:n.155+11637C>G
NM_001234.4:c.216C>G NP_001225.1:p.Cys72Trp
NM_033337.2:c.216C>G , LRG_329t1:c.216C>G NP_203123.1:p.Cys72Trp
NM_001234.5:c.216C>G NP_001225.1:p.Cys72Trp
NM_033337.3:c.216C>G MANE Select NP_203123.1:p.Cys72Trp