Canonical Allele Identifier: CA1344406064
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1379980456
gnomAD v4: 3-8746058-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746058G>A , CM000665.2:g.8746058G>A GRCh38
NC_000003.11:g.8787744G>A , CM000665.1:g.8787744G>A GRCh37
NC_000003.10:g.8762744G>A NCBI36
NG_008797.2:g.17249G>A , LRG_329:g.17249G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*191G>A MANE Select ENSP00000341940.2:n.*191G>A
ENST00000343849.2:c.*191G>A ENSP00000341940.2:n.*191G>A
ENST00000397368.2:c.*95G>A ENSP00000380525.2:n.*95G>A
ENST00000472766.1:n.155+12068G>A
NM_001234.4:c.*95G>A NP_001225.1:n.*95G>A
NM_033337.2:c.*191G>A , LRG_329t1:c.*191G>A NP_203123.1:n.*191G>A
NM_001234.5:c.*95G>A NP_001225.1:n.*95G>A
NM_033337.3:c.*191G>A MANE Select NP_203123.1:n.*191G>A
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