Canonical Allele Identifier: CA2236342

Gene: CAV3

Linked Data

• ClinVar Variation Id: 279733
• ClinVar RCV Id: RCV000457990 ; RCV000726760 ; RCV000987089 ; RCV000769174 ; RCV002252075 ; RCV002446508
• dbSNP Id: rs112626848
• ExAC: 3:8787341 G / A
• gnomAD v2: 3-8787341-G-A
• gnomAD v3: 3-8745655-G-A
• gnomAD v4: 3-8745655-G-A
• COSMIC: COSM3408893
• MyVariant Identifiers: chr3:g.8787341G>A (hg19) ; chr3:g.8745655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745655G>A , CM000665.2:g.8745655G>A	GRCh38
NC_000003.11:g.8787341G>A , CM000665.1:g.8787341G>A	GRCh37
NC_000003.10:g.8762341G>A	NCBI36
NG_008797.2:g.16846G>A , LRG_329:g.16846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.244G>A MANE Select	ENSP00000341940.2:p.Val82Ile
ENST00000343849.2:c.244G>A	ENSP00000341940.2:p.Val82Ile
ENST00000397368.2:c.244G>A	ENSP00000380525.2:p.Val82Ile
ENST00000472766.1:n.155+11665G>A
NM_001234.4:c.244G>A	NP_001225.1:p.Val82Ile
NM_033337.2:c.244G>A , LRG_329t1:c.244G>A	NP_203123.1:p.Val82Ile
NM_001234.5:c.244G>A	NP_001225.1:p.Val82Ile
NM_033337.3:c.244G>A MANE Select	NP_203123.1:p.Val82Ile