Canonical Allele Identifier: CA175393

Gene: CAV3

Linked Data

• ClinVar Variation Id: 8279
• ClinVar RCV Id: RCV000008769 ; RCV000024381 ; RCV000150236 ; RCV000171752 ; RCV000249612 ; RCV000477819 ; RCV000769171 ; RCV001084478 ; RCV001144018 ; RCV000987087 ; RCV003952349
• dbSNP Id: rs116840776
• ExAC: 3:8787313 C / G
• gnomAD v2: 3-8787313-C-G
• gnomAD v3: 3-8745627-C-G
• gnomAD v4: 3-8745627-C-G
• MyVariant Identifiers: chr3:g.8787313C>G (hg19) ; chr3:g.8745627C>G (hg38)
• PubMed: PMID:9536092 ; PMID:11251997 ; PMID:15580566 ; PMID:17060380 ; PMID:17210839 ; PMID:19380584 ; PMID:23465283 ; PMID:23861362 ; PMID:24503780 ; PMID:25630502 ; PMID:25783436 ; PMID:27483260 ; PMID:27600940 ; PMID:28166282 ; PMID:28545623 ; PMID:28807990

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