Canonical Allele Identifier: CA2664271876
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745968-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745968A>G , CM000665.2:g.8745968A>G GRCh38
NC_000003.11:g.8787654A>G , CM000665.1:g.8787654A>G GRCh37
NC_000003.10:g.8762654A>G NCBI36
NG_008797.2:g.17159A>G , LRG_329:g.17159A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*101A>G MANE Select ENSP00000341940.2:n.*101A>G
ENST00000343849.2:c.*101A>G ENSP00000341940.2:n.*101A>G
ENST00000397368.2:c.*7-2A>G ENSP00000380525.2:n.*7-2A>G
ENST00000472766.1:n.155+11978A>G
NM_001234.4:c.*7-2A>G NP_001225.1:n.*7-2A>G
NM_033337.2:c.*101A>G , LRG_329t1:c.*101A>G NP_203123.1:n.*101A>G
NM_001234.5:c.*7-2A>G NP_001225.1:n.*7-2A>G
NM_033337.3:c.*101A>G MANE Select NP_203123.1:n.*101A>G