Canonical Allele Identifier: CA541211258
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1093022
ClinVar RCV Id: RCV001413036

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745518C>T , CM000665.2:g.8745518C>T GRCh38
NC_000003.11:g.8787204C>T , CM000665.1:g.8787204C>T GRCh37
NC_000003.10:g.8762204C>T NCBI36
NG_008797.2:g.16709C>T , LRG_329:g.16709C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-8C>T MANE Select ENSP00000341940.2:p.=
ENST00000343849.2:c.115-8C>T ENSP00000341940.2:p.=
ENST00000397368.2:c.115-8C>T ENSP00000380525.2:p.=
ENST00000472766.1:n.155+11528C>T
NM_001234.4:c.115-8C>T NP_001225.1:p.=
NM_033337.2:c.115-8C>T , LRG_329t1:c.115-8C>T NP_203123.1:p.=
NM_001234.5:c.115-8C>T NP_001225.1:p.=
NM_033337.3:c.115-8C>T MANE Select NP_203123.1:p.=