Canonical Allele Identifier: CA2612218884
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319148-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319148A>G , CM000673.2:g.6319148A>G GRCh38
NC_000011.9:g.6340378A>G , CM000673.1:g.6340378A>G GRCh37
NC_000011.8:g.6296954A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*15T>C MANE Select ENSP00000307292.3:n.*15T>C
ENST00000303927.3:c.*15T>C ENSP00000307292.3:n.*15T>C
ENST00000524852.1:n.587T>C
ENST00000530979.1:c.*15T>C ENSP00000432047.1:n.*15T>C
ENST00000532354.1:n.823T>C
NM_145040.2:c.*15T>C NP_659477.2:n.*15T>C
XR_930997.1:n.720+928A>G
XR_242848.4:n.8A>G
NM_145040.3:c.*15T>C MANE Select NP_659477.2:n.*15T>C
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