Canonical Allele Identifier: CA351663607
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567111
ClinVar RCV Id: RCV003278336

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745772T>A , CM000665.2:g.8745772T>A GRCh38
NC_000003.11:g.8787458T>A , CM000665.1:g.8787458T>A GRCh37
NC_000003.10:g.8762458T>A NCBI36
NG_008797.2:g.16963T>A , LRG_329:g.16963T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.361T>A MANE Select ENSP00000341940.2:p.Tyr121Asn
ENST00000343849.2:c.361T>A ENSP00000341940.2:p.Tyr121Asn
ENST00000397368.2:c.361T>A ENSP00000380525.2:p.Tyr121Asn
ENST00000472766.1:n.155+11782T>A
NM_001234.4:c.361T>A NP_001225.1:p.Tyr121Asn
NM_033337.2:c.361T>A , LRG_329t1:c.361T>A NP_203123.1:p.Tyr121Asn
NM_001234.5:c.361T>A NP_001225.1:p.Tyr121Asn
NM_033337.3:c.361T>A MANE Select NP_203123.1:p.Tyr121Asn