Canonical Allele Identifier: CA1950112564
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319264C= , CM000673.2:g.6319264C= GRCh38
NC_000011.9:g.6340494C= , CM000673.1:g.6340494C= GRCh37
NC_000011.8:g.6297070C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.685G= MANE Select ENSP00000307292.3:p.Glu229=
ENST00000303927.3:c.685G= ENSP00000307292.3:p.Glu229=
ENST00000524852.1:n.471G=
ENST00000530979.1:c.781G= ENSP00000432047.1:p.Glu261=
ENST00000532354.1:n.707G=
NM_145040.2:c.685G= NP_659477.2:p.Glu229=
XR_930997.1:n.720+1044C=
XR_242848.4:n.124C=
NM_145040.3:c.685G= MANE Select NP_659477.2:p.Glu229=