Canonical Allele Identifier: CA2612218864
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319123-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319123G>C , CM000673.2:g.6319123G>C GRCh38
NC_000011.9:g.6340353G>C , CM000673.1:g.6340353G>C GRCh37
NC_000011.8:g.6296929G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*40C>G MANE Select ENSP00000307292.3:n.*40C>G
ENST00000303927.3:c.*40C>G ENSP00000307292.3:n.*40C>G
ENST00000532354.1:n.848C>G
NM_145040.2:c.*40C>G NP_659477.2:n.*40C>G
XR_930997.1:n.720+903G>C
NM_145040.3:c.*40C>G MANE Select NP_659477.2:n.*40C>G
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