Canonical Allele Identifier: CA2612218741
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6318998-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6318998G>A , CM000673.2:g.6318998G>A GRCh38
NC_000011.9:g.6340228G>A , CM000673.1:g.6340228G>A GRCh37
NC_000011.8:g.6296804G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*165C>T MANE Select ENSP00000307292.3:n.*165C>T
ENST00000303927.3:c.*165C>T ENSP00000307292.3:n.*165C>T
ENST00000532354.1:n.973C>T
NM_145040.2:c.*165C>T NP_659477.2:n.*165C>T
XR_930997.1:n.720+778G>A
NM_145040.3:c.*165C>T MANE Select NP_659477.2:n.*165C>T
Search 100 bp 5'
Search 100 bp 3'