Canonical Allele Identifier: CA2236323

Gene: CAV3

Linked Data

• ClinVar Variation Id: 415525
• ClinVar RCV Id: RCV000728682 ; RCV001087907
• dbSNP Id: rs753959620
• ExAC: 3:8787214 G / C
• gnomAD v2: 3-8787214-G-C
• gnomAD v3: 3-8745528-G-C
• gnomAD v4: 3-8745528-G-C
• MyVariant Identifiers: chr3:g.8787214G>C (hg19) ; chr3:g.8745528G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745528G>C , CM000665.2:g.8745528G>C	GRCh38
NC_000003.11:g.8787214G>C , CM000665.1:g.8787214G>C	GRCh37
NC_000003.10:g.8762214G>C	NCBI36
NG_008797.2:g.16719G>C , LRG_329:g.16719G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.117G>C MANE Select	ENSP00000341940.2:p.Val39=
ENST00000343849.2:c.117G>C	ENSP00000341940.2:p.Val39=
ENST00000397368.2:c.117G>C	ENSP00000380525.2:p.Val39=
ENST00000472766.1:n.155+11538G>C
NM_001234.4:c.117G>C	NP_001225.1:p.Val39=
NM_033337.2:c.117G>C , LRG_329t1:c.117G>C	NP_203123.1:p.Val39=
NM_001234.5:c.117G>C	NP_001225.1:p.Val39=
NM_033337.3:c.117G>C MANE Select	NP_203123.1:p.Val39=