Canonical Allele Identifier: CA2236337

Gene: CAV3

Linked Data

• ClinVar Variation Id: 409256
• ClinVar RCV Id: RCV000463594 ; RCV000727940 ; RCV000769172 ; RCV002496772
• dbSNP Id: rs201893621
• ExAC: 3:8787318 G / A
• gnomAD v2: 3-8787318-G-A
• gnomAD v3: 3-8745632-G-A
• gnomAD v4: 3-8745632-G-A
• MyVariant Identifiers: chr3:g.8787318G>A (hg19) ; chr3:g.8745632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745632G>A , CM000665.2:g.8745632G>A	GRCh38
NC_000003.11:g.8787318G>A , CM000665.1:g.8787318G>A	GRCh37
NC_000003.10:g.8762318G>A	NCBI36
NG_008797.2:g.16823G>A , LRG_329:g.16823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.221G>A MANE Select	ENSP00000341940.2:p.Arg74His
ENST00000343849.2:c.221G>A	ENSP00000341940.2:p.Arg74His
ENST00000397368.2:c.221G>A	ENSP00000380525.2:p.Arg74His
ENST00000472766.1:n.155+11642G>A
NM_001234.4:c.221G>A	NP_001225.1:p.Arg74His
NM_033337.2:c.221G>A , LRG_329t1:c.221G>A	NP_203123.1:p.Arg74His
NM_001234.5:c.221G>A	NP_001225.1:p.Arg74His
NM_033337.3:c.221G>A MANE Select	NP_203123.1:p.Arg74His