Canonical Allele Identifier: CA351663277
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062784
ClinVar RCV Id: RCV001372540
dbSNP Id: rs2124988383

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745610G>A , CM000665.2:g.8745610G>A GRCh38
NC_000003.11:g.8787296G>A , CM000665.1:g.8787296G>A GRCh37
NC_000003.10:g.8762296G>A NCBI36
NG_008797.2:g.16801G>A , LRG_329:g.16801G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.199G>A MANE Select ENSP00000341940.2:p.Val67Ile
ENST00000343849.2:c.199G>A ENSP00000341940.2:p.Val67Ile
ENST00000397368.2:c.199G>A ENSP00000380525.2:p.Val67Ile
ENST00000472766.1:n.155+11620G>A
NM_001234.4:c.199G>A NP_001225.1:p.Val67Ile
NM_033337.2:c.199G>A , LRG_329t1:c.199G>A NP_203123.1:p.Val67Ile
NM_001234.5:c.199G>A NP_001225.1:p.Val67Ile
NM_033337.3:c.199G>A MANE Select NP_203123.1:p.Val67Ile