Canonical Allele Identifier: CA351663247
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 596261
ClinVar RCV Id: RCV000732028

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745594C>G , CM000665.2:g.8745594C>G GRCh38
NC_000003.11:g.8787280C>G , CM000665.1:g.8787280C>G GRCh37
NC_000003.10:g.8762280C>G NCBI36
NG_008797.2:g.16785C>G , LRG_329:g.16785C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.183C>G MANE Select ENSP00000341940.2:p.Ser61Arg
ENST00000343849.2:c.183C>G ENSP00000341940.2:p.Ser61Arg
ENST00000397368.2:c.183C>G ENSP00000380525.2:p.Ser61Arg
ENST00000472766.1:n.155+11604C>G
NM_001234.4:c.183C>G NP_001225.1:p.Ser61Arg
NM_033337.2:c.183C>G , LRG_329t1:c.183C>G NP_203123.1:p.Ser61Arg
NM_001234.5:c.183C>G NP_001225.1:p.Ser61Arg
NM_033337.3:c.183C>G MANE Select NP_203123.1:p.Ser61Arg