Canonical Allele Identifier: CA5852165
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs766859703
gnomAD v2: 11-6340355-C-T
gnomAD v4: 11-6319125-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319125C>T , CM000673.2:g.6319125C>T GRCh38
NC_000011.9:g.6340355C>T , CM000673.1:g.6340355C>T GRCh37
NC_000011.8:g.6296931C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*38G>A MANE Select ENSP00000307292.3:n.*38G>A
ENST00000303927.3:c.*38G>A ENSP00000307292.3:n.*38G>A
ENST00000532354.1:n.846G>A
NM_145040.2:c.*38G>A NP_659477.2:n.*38G>A
XR_930997.1:n.720+905C>T
NM_145040.3:c.*38G>A MANE Select NP_659477.2:n.*38G>A