Canonical Allele Identifier: CA2236324
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 409255
dbSNP Id: rs137901165
gnomAD v2: 3-8787222-A-C
gnomAD v3: 3-8745536-A-C
gnomAD v4: 3-8745536-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745536A>C , CM000665.2:g.8745536A>C GRCh38
NC_000003.11:g.8787222A>C , CM000665.1:g.8787222A>C GRCh37
NC_000003.10:g.8762222A>C NCBI36
NG_008797.2:g.16727A>C , LRG_329:g.16727A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.125A>C MANE Select ENSP00000341940.2:p.Glu42Ala
ENST00000343849.2:c.125A>C ENSP00000341940.2:p.Glu42Ala
ENST00000397368.2:c.125A>C ENSP00000380525.2:p.Glu42Ala
ENST00000472766.1:n.155+11546A>C
NM_001234.4:c.125A>C NP_001225.1:p.Glu42Ala
NM_033337.2:c.125A>C , LRG_329t1:c.125A>C NP_203123.1:p.Glu42Ala
NM_001234.5:c.125A>C NP_001225.1:p.Glu42Ala
NM_033337.3:c.125A>C MANE Select NP_203123.1:p.Glu42Ala