Canonical Allele Identifier: CA351663535
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1426802
ClinVar RCV Id: RCV001929607 RCV002051986
dbSNP Id: rs2124988641
MyVariant Identifiers: chr3:g.8787427C>A (hg19) chr3:g.8745741C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745741C>A , CM000665.2:g.8745741C>A GRCh38
NC_000003.11:g.8787427C>A , CM000665.1:g.8787427C>A GRCh37
NC_000003.10:g.8762427C>A NCBI36
NG_008797.2:g.16932C>A , LRG_329:g.16932C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.330C>A MANE Select ENSP00000341940.2:p.Tyr110Ter
ENST00000343849.2:c.330C>A ENSP00000341940.2:p.Tyr110Ter
ENST00000397368.2:c.330C>A ENSP00000380525.2:p.Tyr110Ter
ENST00000472766.1:n.155+11751C>A
NM_001234.4:c.330C>A NP_001225.1:p.Tyr110Ter
NM_033337.2:c.330C>A , LRG_329t1:c.330C>A NP_203123.1:p.Tyr110Ter
NM_001234.5:c.330C>A NP_001225.1:p.Tyr110Ter
NM_033337.3:c.330C>A MANE Select NP_203123.1:p.Tyr110Ter
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