Canonical Allele Identifier: CA138578

Gene: CAV3

Linked Data

• ClinVar Variation Id: 46537
• ClinVar RCV Id: RCV000039806 ; RCV000551053 ; RCV001642567 ; RCV003372611
• dbSNP Id: rs376749605
• ExAC: 3:8787541 G / A
• gnomAD v2: 3-8787541-G-A
• gnomAD v3: 3-8745855-G-A
• gnomAD v4: 3-8745855-G-A
• MyVariant Identifiers: chr3:g.8787541G>A (hg19) ; chr3:g.8745855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745855G>A , CM000665.2:g.8745855G>A	GRCh38
NC_000003.11:g.8787541G>A , CM000665.1:g.8787541G>A	GRCh37
NC_000003.10:g.8762541G>A	NCBI36
NG_008797.2:g.17046G>A , LRG_329:g.17046G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.444G>A MANE Select	ENSP00000341940.2:p.Arg148=
ENST00000343849.2:c.444G>A	ENSP00000341940.2:p.Arg148=
ENST00000397368.2:c.444G>A	ENSP00000380525.2:p.Arg148=
ENST00000472766.1:n.155+11865G>A
NM_001234.4:c.444G>A	NP_001225.1:p.Arg148=
NM_033337.2:c.444G>A , LRG_329t1:c.444G>A	NP_203123.1:p.Arg148=
NM_001234.5:c.444G>A	NP_001225.1:p.Arg148=
NM_033337.3:c.444G>A MANE Select	NP_203123.1:p.Arg148=