Canonical Allele Identifier: CA2236374
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 385929
ClinVar RCV Id: RCV000440495
dbSNP Id: rs769655378
gnomAD v2: 3-8787559-G-A
gnomAD v3: 3-8745873-G-A
gnomAD v4: 3-8745873-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745873G>A , CM000665.2:g.8745873G>A GRCh38
NC_000003.11:g.8787559G>A , CM000665.1:g.8787559G>A GRCh37
NC_000003.10:g.8762559G>A NCBI36
NG_008797.2:g.17064G>A , LRG_329:g.17064G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.*6G>A MANE Select ENSP00000341940.2:n.*6G>A
ENST00000343849.2:c.*6G>A ENSP00000341940.2:n.*6G>A
ENST00000397368.2:c.*6G>A ENSP00000380525.2:n.*6G>A
ENST00000472766.1:n.155+11883G>A
NM_001234.4:c.*6G>A NP_001225.1:n.*6G>A
NM_033337.2:c.*6G>A , LRG_329t1:c.*6G>A NP_203123.1:n.*6G>A
NM_001234.5:c.*6G>A NP_001225.1:n.*6G>A
NM_033337.3:c.*6G>A MANE Select NP_203123.1:n.*6G>A