Canonical Allele Identifier: CA69870354

Gene: CAV3

Linked Data

• ClinVar Variation Id: 1025525
• ClinVar RCV Id: RCV001325852 ; RCV002499640
• dbSNP Id: rs137881434
• gnomAD v3: 3-8745658-C-T
• gnomAD v4: 3-8745658-C-T
• MyVariant Identifiers: chr3:g.8787344C>T (hg19) ; chr3:g.8745658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745658C>T , CM000665.2:g.8745658C>T	GRCh38
NC_000003.11:g.8787344C>T , CM000665.1:g.8787344C>T	GRCh37
NC_000003.10:g.8762344C>T	NCBI36
NG_008797.2:g.16849C>T , LRG_329:g.16849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.247C>T MANE Select	ENSP00000341940.2:p.Pro83Ser
ENST00000343849.2:c.247C>T	ENSP00000341940.2:p.Pro83Ser
ENST00000397368.2:c.247C>T	ENSP00000380525.2:p.Pro83Ser
ENST00000472766.1:n.155+11668C>T
NM_001234.4:c.247C>T	NP_001225.1:p.Pro83Ser
NM_033337.2:c.247C>T , LRG_329t1:c.247C>T	NP_203123.1:p.Pro83Ser
NM_001234.5:c.247C>T	NP_001225.1:p.Pro83Ser
NM_033337.3:c.247C>T MANE Select	NP_203123.1:p.Pro83Ser