Canonical Allele Identifier: CA2236380

Gene: CAV3

Linked Data

• ClinVar Variation Id: 900584
• ClinVar RCV Id: RCV001145926 ; RCV001701291 ; RCV004017790 ; RCV001644921
• dbSNP Id: rs137946394
• ExAC: 3:8787573 G / A
• gnomAD v2: 3-8787573-G-A
• gnomAD v3: 3-8745887-G-A
• gnomAD v4: 3-8745887-G-A
• MyVariant Identifiers: chr3:g.8787573G>A (hg19) ; chr3:g.8745887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745887G>A , CM000665.2:g.8745887G>A	GRCh38
NC_000003.11:g.8787573G>A , CM000665.1:g.8787573G>A	GRCh37
NC_000003.10:g.8762573G>A	NCBI36
NG_008797.2:g.17078G>A , LRG_329:g.17078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*20G>A MANE Select	ENSP00000341940.2:n.*20G>A
ENST00000343849.2:c.*20G>A	ENSP00000341940.2:n.*20G>A
ENST00000397368.2:c.*6+14G>A	ENSP00000380525.2:n.*6+14G>A
ENST00000472766.1:n.155+11897G>A
NM_001234.4:c.*6+14G>A	NP_001225.1:n.*6+14G>A
NM_033337.2:c.*20G>A , LRG_329t1:c.*20G>A	NP_203123.1:n.*20G>A
NM_001234.5:c.*6+14G>A	NP_001225.1:n.*6+14G>A
NM_033337.3:c.*20G>A MANE Select	NP_203123.1:n.*20G>A