Canonical Allele Identifier: CA119452
Gene: CAV3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8292
dbSNP Id: rs104893714

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745701T>G , CM000665.2:g.8745701T>G GRCh38
NC_000003.11:g.8787387T>G , CM000665.1:g.8787387T>G GRCh37
NC_000003.10:g.8762387T>G NCBI36
NG_008797.2:g.16892T>G , LRG_329:g.16892T>G

Transcript Alleles

HGVS Amino-acid change
NM_001234.4:c.290T>G VV NP_001225.1:p.Phe97Cys
NM_033337.2:c.290T>G , LRG_329t1:c.290T>G NP_203123.1:p.Phe97Cys
ENST00000343849.2:c.290T>G ENSP00000341940.2:p.Phe97Cys
ENST00000397368.2:c.290T>G ENSP00000380525.2:p.Phe97Cys
ENST00000472766.1:n.155+11711T>G