Canonical Allele Identifier: CA2236355
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs779973988

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745765C>A , CM000665.2:g.8745765C>A GRCh38
NC_000003.11:g.8787451C>A , CM000665.1:g.8787451C>A GRCh37
NC_000003.10:g.8762451C>A NCBI36
NG_008797.2:g.16956C>A , LRG_329:g.16956C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.354C>A MANE Select ENSP00000341940.2:p.Ser118Arg
ENST00000343849.2:c.354C>A ENSP00000341940.2:p.Ser118Arg
ENST00000397368.2:c.354C>A ENSP00000380525.2:p.Ser118Arg
ENST00000472766.1:n.155+11775C>A
NM_001234.4:c.354C>A NP_001225.1:p.Ser118Arg
NM_033337.2:c.354C>A , LRG_329t1:c.354C>A NP_203123.1:p.Ser118Arg
NM_001234.5:c.354C>A NP_001225.1:p.Ser118Arg
NM_033337.3:c.354C>A MANE Select NP_203123.1:p.Ser118Arg