Canonical Allele Identifier: CA351663249
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384900
ClinVar RCV Id: RCV001902688
dbSNP Id: rs2124988355

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745595T>C , CM000665.2:g.8745595T>C GRCh38
NC_000003.11:g.8787281T>C , CM000665.1:g.8787281T>C GRCh37
NC_000003.10:g.8762281T>C NCBI36
NG_008797.2:g.16786T>C , LRG_329:g.16786T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.184T>C MANE Select ENSP00000341940.2:p.Tyr62His
ENST00000343849.2:c.184T>C ENSP00000341940.2:p.Tyr62His
ENST00000397368.2:c.184T>C ENSP00000380525.2:p.Tyr62His
ENST00000472766.1:n.155+11605T>C
NM_001234.4:c.184T>C NP_001225.1:p.Tyr62His
NM_033337.2:c.184T>C , LRG_329t1:c.184T>C NP_203123.1:p.Tyr62His
NM_001234.5:c.184T>C NP_001225.1:p.Tyr62His
NM_033337.3:c.184T>C MANE Select NP_203123.1:p.Tyr62His