Canonical Allele Identifier: CA215227
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8296
dbSNP Id: rs121909282

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745647T>G , CM000665.2:g.8745647T>G GRCh38
NC_000003.11:g.8787333T>G , CM000665.1:g.8787333T>G GRCh37
NC_000003.10:g.8762333T>G NCBI36
NG_008797.2:g.16838T>G , LRG_329:g.16838T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.236T>G MANE Select ENSP00000341940.2:p.Leu79Arg
ENST00000343849.2:c.236T>G ENSP00000341940.2:p.Leu79Arg
ENST00000397368.2:c.236T>G ENSP00000380525.2:p.Leu79Arg
ENST00000472766.1:n.155+11657T>G
NM_001234.4:c.236T>G NP_001225.1:p.Leu79Arg
NM_033337.2:c.236T>G , LRG_329t1:c.236T>G NP_203123.1:p.Leu79Arg
NM_001234.5:c.236T>G NP_001225.1:p.Leu79Arg
NM_033337.3:c.236T>G MANE Select NP_203123.1:p.Leu79Arg