Canonical Allele Identifier: CA295950
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 180801
dbSNP Id: rs730880422

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745853C>T , CM000665.2:g.8745853C>T GRCh38
NC_000003.11:g.8787539C>T , CM000665.1:g.8787539C>T GRCh37
NC_000003.10:g.8762539C>T NCBI36
NG_008797.2:g.17044C>T , LRG_329:g.17044C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.442C>T MANE Select ENSP00000341940.2:p.Arg148Trp
ENST00000343849.2:c.442C>T ENSP00000341940.2:p.Arg148Trp
ENST00000397368.2:c.442C>T ENSP00000380525.2:p.Arg148Trp
ENST00000472766.1:n.155+11863C>T
NM_001234.4:c.442C>T NP_001225.1:p.Arg148Trp
NM_033337.2:c.442C>T , LRG_329t1:c.442C>T NP_203123.1:p.Arg148Trp
NM_001234.5:c.442C>T NP_001225.1:p.Arg148Trp
NM_033337.3:c.442C>T MANE Select NP_203123.1:p.Arg148Trp