Canonical Allele Identifier: CA119422

Gene: CAV3

Linked Data

• ClinVar Variation Id: 8278
• ClinVar RCV Id: RCV001171080 ; RCV002496306
• dbSNP Id: rs72546667
• ExAC: 3:8787263 G / A
• gnomAD v2: 3-8787263-G-A
• gnomAD v3: 3-8745577-G-A
• gnomAD v4: 3-8745577-G-A
• MyVariant Identifiers: chr3:g.8787263G>A (hg19) ; chr3:g.8745577G>A (hg38)
• PubMed: PMID:9536092 ; PMID:11251997 ; PMID:11884389 ; PMID:15580566 ; PMID:16770780 ; PMID:17060380 ; PMID:17275750 ; PMID:20472890 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745577G>A , CM000665.2:g.8745577G>A	GRCh38
NC_000003.11:g.8787263G>A , CM000665.1:g.8787263G>A	GRCh37
NC_000003.10:g.8762263G>A	NCBI36
NG_008797.2:g.16768G>A , LRG_329:g.16768G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.166G>A MANE Select	ENSP00000341940.2:p.Gly56Ser
ENST00000343849.2:c.166G>A	ENSP00000341940.2:p.Gly56Ser
ENST00000397368.2:c.166G>A	ENSP00000380525.2:p.Gly56Ser
ENST00000472766.1:n.155+11587G>A
NM_001234.4:c.166G>A	NP_001225.1:p.Gly56Ser
NM_033337.2:c.166G>A , LRG_329t1:c.166G>A	NP_203123.1:p.Gly56Ser
NM_001234.5:c.166G>A	NP_001225.1:p.Gly56Ser
NM_033337.3:c.166G>A MANE Select	NP_203123.1:p.Gly56Ser