Canonical Allele Identifier: CA215168

Gene: CAV3

Linked Data

• ClinVar Variation Id: 31720
• ClinVar RCV Id: RCV000024404 ; RCV000294459 ; RCV000347017 ; RCV000396877
• dbSNP Id: rs7629329
• gnomAD v2: 3-8788336-A-G
• gnomAD v3: 3-8746650-A-G
• gnomAD v4: 3-8746650-A-G
• MyVariant Identifiers: chr3:g.8788336A>G (hg19) ; chr3:g.8746650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8746650A>G , CM000665.2:g.8746650A>G	GRCh38
NC_000003.11:g.8788336A>G , CM000665.1:g.8788336A>G	GRCh37
NC_000003.10:g.8763336A>G	NCBI36
NG_008797.2:g.17841A>G , LRG_329:g.17841A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*783A>G MANE Select	ENSP00000341940.2:n.*783A>G
ENST00000343849.2:c.*783A>G	ENSP00000341940.2:n.*783A>G
ENST00000397368.2:c.*687A>G	ENSP00000380525.2:n.*687A>G
ENST00000472766.1:n.155+12660A>G
NM_001234.4:c.*687A>G	NP_001225.1:n.*687A>G
NM_033337.2:c.*783A>G , LRG_329t1:c.*783A>G	NP_203123.1:n.*783A>G
NM_001234.5:c.*687A>G	NP_001225.1:n.*687A>G
NM_033337.3:c.*783A>G MANE Select	NP_203123.1:n.*783A>G