Canonical Allele Identifier: CA10619712

Gene: CAV3

Linked Data

• ClinVar Variation Id: 346856
• ClinVar RCV Id: RCV000310544 ; RCV000313896 ; RCV000368691 ; RCV000365256 ; RCV000399123
• dbSNP Id: rs886058918
• gnomAD v4: 3-8746592-T-C
• MyVariant Identifiers: chr3:g.8788278T>C (hg19) ; chr3:g.8746592T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8746592T>C , CM000665.2:g.8746592T>C	GRCh38
NC_000003.11:g.8788278T>C , CM000665.1:g.8788278T>C	GRCh37
NC_000003.10:g.8763278T>C	NCBI36
NG_008797.2:g.17783T>C , LRG_329:g.17783T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*725T>C MANE Select	ENSP00000341940.2:n.*725T>C
ENST00000343849.2:c.*725T>C	ENSP00000341940.2:n.*725T>C
ENST00000397368.2:c.*629T>C	ENSP00000380525.2:n.*629T>C
ENST00000472766.1:n.155+12602T>C
NM_001234.4:c.*629T>C	NP_001225.1:n.*629T>C
NM_033337.2:c.*725T>C , LRG_329t1:c.*725T>C	NP_203123.1:n.*725T>C
NM_001234.5:c.*629T>C	NP_001225.1:n.*629T>C
NM_033337.3:c.*725T>C MANE Select	NP_203123.1:n.*725T>C