Canonical Allele Identifier: CA2236339

Gene: CAV3

Linked Data

• ClinVar Variation Id: 241747
• ClinVar RCV Id: RCV000253071 ; RCV000273454 ; RCV000726534 ; RCV001081271
• dbSNP Id: rs148846096
• ExAC: 3:8787331 G / A
• gnomAD v2: 3-8787331-G-A
• gnomAD v3: 3-8745645-G-A
• gnomAD v4: 3-8745645-G-A
• COSMIC: COSM298064
• MyVariant Identifiers: chr3:g.8787331G>A (hg19) ; chr3:g.8745645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745645G>A , CM000665.2:g.8745645G>A	GRCh38
NC_000003.11:g.8787331G>A , CM000665.1:g.8787331G>A	GRCh37
NC_000003.10:g.8762331G>A	NCBI36
NG_008797.2:g.16836G>A , LRG_329:g.16836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.234G>A MANE Select	ENSP00000341940.2:p.Thr78=
ENST00000343849.2:c.234G>A	ENSP00000341940.2:p.Thr78=
ENST00000397368.2:c.234G>A	ENSP00000380525.2:p.Thr78=
ENST00000472766.1:n.155+11655G>A
NM_001234.4:c.234G>A	NP_001225.1:p.Thr78=
NM_033337.2:c.234G>A , LRG_329t1:c.234G>A	NP_203123.1:p.Thr78=
NM_001234.5:c.234G>A	NP_001225.1:p.Thr78=
NM_033337.3:c.234G>A MANE Select	NP_203123.1:p.Thr78=