Canonical Allele Identifier: CA2612218821
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319064-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319064A>G , CM000673.2:g.6319064A>G GRCh38
NC_000011.9:g.6340294A>G , CM000673.1:g.6340294A>G GRCh37
NC_000011.8:g.6296870A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*99T>C MANE Select ENSP00000307292.3:n.*99T>C
ENST00000303927.3:c.*99T>C ENSP00000307292.3:n.*99T>C
ENST00000532354.1:n.907T>C
NM_145040.2:c.*99T>C NP_659477.2:n.*99T>C
XR_930997.1:n.720+844A>G
NM_145040.3:c.*99T>C MANE Select NP_659477.2:n.*99T>C
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