Canonical Allele Identifier: CA1950112494
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319141G= , CM000673.2:g.6319141G= GRCh38
NC_000011.9:g.6340371G= , CM000673.1:g.6340371G= GRCh37
NC_000011.8:g.6296947G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*22C= MANE Select ENSP00000307292.3:n.*22C=
ENST00000303927.3:c.*22C= ENSP00000307292.3:n.*22C=
ENST00000524852.1:n.594C=
ENST00000532354.1:n.830C=
NM_145040.2:c.*22C= NP_659477.2:n.*22C=
XR_930997.1:n.720+921G=
XR_242848.4:n.1G=
NM_145040.3:c.*22C= MANE Select NP_659477.2:n.*22C=