Canonical Allele Identifier: CA2236382
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1246062
ClinVar RCV Id: RCV001654154
dbSNP Id: rs377314109
ExAC: 3:8787589 G / A
gnomAD v2: 3-8787589-G-A
gnomAD v3: 3-8745903-G-A
gnomAD v4: 3-8745903-G-A
MyVariant Identifiers: chr3:g.8787589G>A (hg19) chr3:g.8745903G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745903G>A , CM000665.2:g.8745903G>A GRCh38
NC_000003.11:g.8787589G>A , CM000665.1:g.8787589G>A GRCh37
NC_000003.10:g.8762589G>A NCBI36
NG_008797.2:g.17094G>A , LRG_329:g.17094G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.*36G>A MANE Select ENSP00000341940.2:n.*36G>A
ENST00000343849.2:c.*36G>A ENSP00000341940.2:n.*36G>A
ENST00000397368.2:c.*6+30G>A ENSP00000380525.2:n.*6+30G>A
ENST00000472766.1:n.155+11913G>A
NM_001234.4:c.*6+30G>A NP_001225.1:n.*6+30G>A
NM_033337.2:c.*36G>A , LRG_329t1:c.*36G>A NP_203123.1:n.*36G>A
NM_001234.5:c.*6+30G>A NP_001225.1:n.*6+30G>A
NM_033337.3:c.*36G>A MANE Select NP_203123.1:n.*36G>A
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