Canonical Allele Identifier: CA351663399

Gene: CAV3

Linked Data

• ClinVar Variation Id: 804667
• ClinVar RCV Id: RCV000991749 ; RCV001858740
• dbSNP Id: rs1575477762
• gnomAD v4: 3-8745677-G-A
• MyVariant Identifiers: chr3:g.8787363G>A (hg19) ; chr3:g.8745677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745677G>A , CM000665.2:g.8745677G>A	GRCh38
NC_000003.11:g.8787363G>A , CM000665.1:g.8787363G>A	GRCh37
NC_000003.10:g.8762363G>A	NCBI36
NG_008797.2:g.16868G>A , LRG_329:g.16868G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.266G>A MANE Select	ENSP00000341940.2:p.Gly89Asp
ENST00000343849.2:c.266G>A	ENSP00000341940.2:p.Gly89Asp
ENST00000397368.2:c.266G>A	ENSP00000380525.2:p.Gly89Asp
ENST00000472766.1:n.155+11687G>A
NM_001234.4:c.266G>A	NP_001225.1:p.Gly89Asp
NM_033337.2:c.266G>A , LRG_329t1:c.266G>A	NP_203123.1:p.Gly89Asp
NM_001234.5:c.266G>A	NP_001225.1:p.Gly89Asp
NM_033337.3:c.266G>A MANE Select	NP_203123.1:p.Gly89Asp