Canonical Allele Identifier: CA119428

Gene: CAV3

Linked Data

• ClinVar Variation Id: 8281
• ClinVar RCV Id: RCV000008772 ; RCV000008774 ; RCV000024382 ; RCV001384920 ; RCV002381245
• dbSNP Id: rs116840789
• gnomAD v4: 3-8745547-G-A
• COSMIC: COSM297359
• MyVariant Identifiers: chr3:g.8787233G>A (hg19) ; chr3:g.8745547G>A (hg38)
• PubMed: PMID:1146501 ; PMID:10227634 ; PMID:11001938 ; PMID:11431690 ; PMID:15580566 ; PMID:18583131 ; PMID:20229577 ; PMID:20472890 ; PMID:21660982 ; PMID:22976939 ; PMID:26947586

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745547G>A , CM000665.2:g.8745547G>A	GRCh38
NC_000003.11:g.8787233G>A , CM000665.1:g.8787233G>A	GRCh37
NC_000003.10:g.8762233G>A	NCBI36
NG_008797.2:g.16738G>A , LRG_329:g.16738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.136G>A MANE Select	ENSP00000341940.2:p.Ala46Thr
ENST00000343849.2:c.136G>A	ENSP00000341940.2:p.Ala46Thr
ENST00000397368.2:c.136G>A	ENSP00000380525.2:p.Ala46Thr
ENST00000472766.1:n.155+11557G>A
NM_001234.4:c.136G>A	NP_001225.1:p.Ala46Thr
NM_033337.2:c.136G>A , LRG_329t1:c.136G>A	NP_203123.1:p.Ala46Thr
NM_001234.5:c.136G>A	NP_001225.1:p.Ala46Thr
NM_033337.3:c.136G>A MANE Select	NP_203123.1:p.Ala46Thr