Canonical Allele Identifier: CA184483

Gene: CAV3

Linked Data

• ClinVar Variation Id: 136659
• ClinVar RCV Id: RCV000156261 ; RCV000251007 ; RCV001079520 ; RCV000724964 ; RCV001150161
• dbSNP Id: rs201593267
• ExAC: 3:8787298 C / A
• gnomAD v2: 3-8787298-C-A
• gnomAD v3: 3-8745612-C-A
• gnomAD v4: 3-8745612-C-A
• MyVariant Identifiers: chr3:g.8787298C>A (hg19) ; chr3:g.8745612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745612C>A , CM000665.2:g.8745612C>A	GRCh38
NC_000003.11:g.8787298C>A , CM000665.1:g.8787298C>A	GRCh37
NC_000003.10:g.8762298C>A	NCBI36
NG_008797.2:g.16803C>A , LRG_329:g.16803C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.201C>A MANE Select	ENSP00000341940.2:p.Val67=
ENST00000343849.2:c.201C>A	ENSP00000341940.2:p.Val67=
ENST00000397368.2:c.201C>A	ENSP00000380525.2:p.Val67=
ENST00000472766.1:n.155+11622C>A
NM_001234.4:c.201C>A	NP_001225.1:p.Val67=
NM_033337.2:c.201C>A , LRG_329t1:c.201C>A	NP_203123.1:p.Val67=
NM_001234.5:c.201C>A	NP_001225.1:p.Val67=
NM_033337.3:c.201C>A MANE Select	NP_203123.1:p.Val67=