Canonical Allele Identifier: CA69870547

Gene: CAV3

Linked Data

• ClinVar Variation Id: 519482
• ClinVar RCV Id: RCV000618424 ; RCV000769177 ; RCV001054529 ; RCV003886421
• dbSNP Id: rs921802744
• gnomAD v4: 3-8745748-G-A
• MyVariant Identifiers: chr3:g.8787434G>A (hg19) ; chr3:g.8745748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745748G>A , CM000665.2:g.8745748G>A	GRCh38
NC_000003.11:g.8787434G>A , CM000665.1:g.8787434G>A	GRCh37
NC_000003.10:g.8762434G>A	NCBI36
NG_008797.2:g.16939G>A , LRG_329:g.16939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.337G>A MANE Select	ENSP00000341940.2:p.Glu113Lys
ENST00000343849.2:c.337G>A	ENSP00000341940.2:p.Glu113Lys
ENST00000397368.2:c.337G>A	ENSP00000380525.2:p.Glu113Lys
ENST00000472766.1:n.155+11758G>A
NM_001234.4:c.337G>A	NP_001225.1:p.Glu113Lys
NM_033337.2:c.337G>A , LRG_329t1:c.337G>A	NP_203123.1:p.Glu113Lys
NM_001234.5:c.337G>A	NP_001225.1:p.Glu113Lys
NM_033337.3:c.337G>A MANE Select	NP_203123.1:p.Glu113Lys