Canonical Allele Identifier: CA215190
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31732
ClinVar RCV Id: RCV000024418
dbSNP Id: rs116840788

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745542T>A , CM000665.2:g.8745542T>A GRCh38
NC_000003.11:g.8787228T>A , CM000665.1:g.8787228T>A GRCh37
NC_000003.10:g.8762228T>A NCBI36
NG_008797.2:g.16733T>A , LRG_329:g.16733T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.131T>A MANE Select ENSP00000341940.2:p.Val44Glu
ENST00000343849.2:c.131T>A ENSP00000341940.2:p.Val44Glu
ENST00000397368.2:c.131T>A ENSP00000380525.2:p.Val44Glu
ENST00000472766.1:n.155+11552T>A
NM_001234.4:c.131T>A NP_001225.1:p.Val44Glu
NM_033337.2:c.131T>A , LRG_329t1:c.131T>A NP_203123.1:p.Val44Glu
NM_001234.5:c.131T>A NP_001225.1:p.Val44Glu
NM_033337.3:c.131T>A MANE Select NP_203123.1:p.Val44Glu