Canonical Allele Identifier: CA119440

Gene: CAV3

Linked Data

• ClinVar Variation Id: 8285
• ClinVar RCV Id: RCV000008780 ; RCV000024388 ; RCV000234612 ; RCV000622234 ; RCV000826098
• dbSNP Id: rs28936686
• ExAC: 3:8787374 G / A
• gnomAD v2: 3-8787374-G-A
• gnomAD v3: 3-8745688-G-A
• gnomAD v4: 3-8745688-G-A
• COSMIC: COSM2828095
• MyVariant Identifiers: chr3:g.8787374G>A (hg19) ; chr3:g.8745688G>A (hg38)
• PubMed: PMID:12666119 ; PMID:15580566 ; PMID:15668980 ; PMID:19697367 ; PMID:25351510 ; PMID:27184587

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745688G>A , CM000665.2:g.8745688G>A	GRCh38
NC_000003.11:g.8787374G>A , CM000665.1:g.8787374G>A	GRCh37
NC_000003.10:g.8762374G>A	NCBI36
NG_008797.2:g.16879G>A , LRG_329:g.16879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.277G>A MANE Select	ENSP00000341940.2:p.Ala93Thr
ENST00000343849.2:c.277G>A	ENSP00000341940.2:p.Ala93Thr
ENST00000397368.2:c.277G>A	ENSP00000380525.2:p.Ala93Thr
ENST00000472766.1:n.155+11698G>A
NM_001234.4:c.277G>A	NP_001225.1:p.Ala93Thr
NM_033337.2:c.277G>A , LRG_329t1:c.277G>A	NP_203123.1:p.Ala93Thr
NM_001234.5:c.277G>A	NP_001225.1:p.Ala93Thr
NM_033337.3:c.277G>A MANE Select	NP_203123.1:p.Ala93Thr