Canonical Allele Identifier: CA2236369

Gene: CAV3

Linked Data

• ClinVar Variation Id: 1116847
• ClinVar RCV Id: RCV001445394 ; RCV002329505
• dbSNP Id: rs750004840
• ExAC: 3:8787526 C / A
• gnomAD v2: 3-8787526-C-A
• gnomAD v4: 3-8745840-C-A
• MyVariant Identifiers: chr3:g.8787526C>A (hg19) ; chr3:g.8745840C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745840C>A , CM000665.2:g.8745840C>A	GRCh38
NC_000003.11:g.8787526C>A , CM000665.1:g.8787526C>A	GRCh37
NC_000003.10:g.8762526C>A	NCBI36
NG_008797.2:g.17031C>A , LRG_329:g.17031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.429C>A MANE Select	ENSP00000341940.2:p.Ile143=
ENST00000343849.2:c.429C>A	ENSP00000341940.2:p.Ile143=
ENST00000397368.2:c.429C>A	ENSP00000380525.2:p.Ile143=
ENST00000472766.1:n.155+11850C>A
NM_001234.4:c.429C>A	NP_001225.1:p.Ile143=
NM_033337.2:c.429C>A , LRG_329t1:c.429C>A	NP_203123.1:p.Ile143=
NM_001234.5:c.429C>A	NP_001225.1:p.Ile143=
NM_033337.3:c.429C>A MANE Select	NP_203123.1:p.Ile143=