Canonical Allele Identifier: CA1950112686
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319474C= , CM000673.2:g.6319474C= GRCh38
NC_000011.9:g.6340704C= , CM000673.1:g.6340704C= GRCh37
NC_000011.8:g.6297280C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.475G= MANE Select ENSP00000307292.3:p.Glu159=
ENST00000303927.3:c.475G= ENSP00000307292.3:p.Glu159=
ENST00000524852.1:n.261G=
ENST00000530979.1:c.571G= ENSP00000432047.1:p.Glu191=
ENST00000532354.1:n.497G=
NM_145040.2:c.475G= NP_659477.2:p.Glu159=
XR_930997.1:n.720+1254C=
XR_001748106.1:n.85C=
XR_242848.4:n.334C=
NM_145040.3:c.475G= MANE Select NP_659477.2:p.Glu159=