Canonical Allele Identifier: CA119422
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8278
dbSNP Id: rs72546667

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745577G>A , CM000665.2:g.8745577G>A GRCh38
NC_000003.11:g.8787263G>A , CM000665.1:g.8787263G>A GRCh37
NC_000003.10:g.8762263G>A NCBI36
NG_008797.2:g.16768G>A , LRG_329:g.16768G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.166G>A MANE Select ENSP00000341940.2:p.Gly56Ser
ENST00000343849.2:c.166G>A ENSP00000341940.2:p.Gly56Ser
ENST00000397368.2:c.166G>A ENSP00000380525.2:p.Gly56Ser
ENST00000472766.1:n.155+11587G>A
NM_001234.4:c.166G>A NP_001225.1:p.Gly56Ser
NM_033337.2:c.166G>A , LRG_329t1:c.166G>A NP_203123.1:p.Gly56Ser
NM_001234.5:c.166G>A NP_001225.1:p.Gly56Ser
NM_033337.3:c.166G>A MANE Select NP_203123.1:p.Gly56Ser