Canonical Allele Identifier: CA2664271988
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8746067-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746067C>A , CM000665.2:g.8746067C>A GRCh38
NC_000003.11:g.8787753C>A , CM000665.1:g.8787753C>A GRCh37
NC_000003.10:g.8762753C>A NCBI36
NG_008797.2:g.17258C>A , LRG_329:g.17258C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*200C>A MANE Select ENSP00000341940.2:n.*200C>A
ENST00000343849.2:c.*200C>A ENSP00000341940.2:n.*200C>A
ENST00000397368.2:c.*104C>A ENSP00000380525.2:n.*104C>A
ENST00000472766.1:n.155+12077C>A
NM_001234.4:c.*104C>A NP_001225.1:n.*104C>A
NM_033337.2:c.*200C>A , LRG_329t1:c.*200C>A NP_203123.1:n.*200C>A
NM_001234.5:c.*104C>A NP_001225.1:n.*104C>A
NM_033337.3:c.*200C>A MANE Select NP_203123.1:n.*200C>A
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