Canonical Allele Identifier: CA138572

Gene: CAV3

Linked Data

• ClinVar Variation Id: 46535
• ClinVar RCV Id: RCV000039804 ; RCV000228312 ; RCV000618985 ; RCV001711154
• dbSNP Id: rs149375325
• ExAC: 3:8787403 G / A
• gnomAD v2: 3-8787403-G-A
• gnomAD v3: 3-8745717-G-A
• gnomAD v4: 3-8745717-G-A
• MyVariant Identifiers: chr3:g.8787403G>A (hg19) ; chr3:g.8745717G>A (hg38)
• PubMed: PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745717G>A , CM000665.2:g.8745717G>A	GRCh38
NC_000003.11:g.8787403G>A , CM000665.1:g.8787403G>A	GRCh37
NC_000003.10:g.8762403G>A	NCBI36
NG_008797.2:g.16908G>A , LRG_329:g.16908G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.306G>A MANE Select	ENSP00000341940.2:p.Ala102=
ENST00000343849.2:c.306G>A	ENSP00000341940.2:p.Ala102=
ENST00000397368.2:c.306G>A	ENSP00000380525.2:p.Ala102=
ENST00000472766.1:n.155+11727G>A
NM_001234.4:c.306G>A	NP_001225.1:p.Ala102=
NM_033337.2:c.306G>A , LRG_329t1:c.306G>A	NP_203123.1:p.Ala102=
NM_001234.5:c.306G>A	NP_001225.1:p.Ala102=
NM_033337.3:c.306G>A MANE Select	NP_203123.1:p.Ala102=