Canonical Allele Identifier: CA2612218848
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319098-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319098T>C , CM000673.2:g.6319098T>C GRCh38
NC_000011.9:g.6340328T>C , CM000673.1:g.6340328T>C GRCh37
NC_000011.8:g.6296904T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*65A>G MANE Select ENSP00000307292.3:n.*65A>G
ENST00000303927.3:c.*65A>G ENSP00000307292.3:n.*65A>G
ENST00000532354.1:n.873A>G
NM_145040.2:c.*65A>G NP_659477.2:n.*65A>G
XR_930997.1:n.720+878T>C
NM_145040.3:c.*65A>G MANE Select NP_659477.2:n.*65A>G
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