Canonical Allele Identifier: CA10617543

Gene: CAV3

Linked Data

• ClinVar Variation Id: 346851
• ClinVar RCV Id: RCV000278021 ; RCV000332801 ; RCV000372537
• dbSNP Id: rs184247243
• gnomAD v2: 3-8787830-G-A
• gnomAD v3: 3-8746144-G-A
• gnomAD v4: 3-8746144-G-A
• COSMIC: COSN9004561
• MyVariant Identifiers: chr3:g.8787830G>A (hg19) ; chr3:g.8746144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8746144G>A , CM000665.2:g.8746144G>A	GRCh38
NC_000003.11:g.8787830G>A , CM000665.1:g.8787830G>A	GRCh37
NC_000003.10:g.8762830G>A	NCBI36
NG_008797.2:g.17335G>A , LRG_329:g.17335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*277G>A MANE Select	ENSP00000341940.2:n.*277G>A
ENST00000343849.2:c.*277G>A	ENSP00000341940.2:n.*277G>A
ENST00000397368.2:c.*181G>A	ENSP00000380525.2:n.*181G>A
ENST00000472766.1:n.155+12154G>A
NM_001234.4:c.*181G>A	NP_001225.1:n.*181G>A
NM_033337.2:c.*277G>A , LRG_329t1:c.*277G>A	NP_203123.1:n.*277G>A
NM_001234.5:c.*181G>A	NP_001225.1:n.*181G>A
NM_033337.3:c.*277G>A MANE Select	NP_203123.1:n.*277G>A