Canonical Allele Identifier: CA2236385
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs561023124
ExAC: 3:8787598 C / A
gnomAD v2: 3-8787598-C-A
gnomAD v3: 3-8745912-C-A
gnomAD v4: 3-8745912-C-A
MyVariant Identifiers: chr3:g.8787598C>A (hg19) chr3:g.8745912C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745912C>A , CM000665.2:g.8745912C>A GRCh38
NC_000003.11:g.8787598C>A , CM000665.1:g.8787598C>A GRCh37
NC_000003.10:g.8762598C>A NCBI36
NG_008797.2:g.17103C>A , LRG_329:g.17103C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*45C>A MANE Select ENSP00000341940.2:n.*45C>A
ENST00000343849.2:c.*45C>A ENSP00000341940.2:n.*45C>A
ENST00000397368.2:c.*6+39C>A ENSP00000380525.2:n.*6+39C>A
ENST00000472766.1:n.155+11922C>A
NM_001234.4:c.*6+39C>A NP_001225.1:n.*6+39C>A
NM_033337.2:c.*45C>A , LRG_329t1:c.*45C>A NP_203123.1:n.*45C>A
NM_001234.5:c.*6+39C>A NP_001225.1:n.*6+39C>A
NM_033337.3:c.*45C>A MANE Select NP_203123.1:n.*45C>A
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