Canonical Allele Identifier: CA1950112523
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319183G= , CM000673.2:g.6319183G= GRCh38
NC_000011.9:g.6340413G= , CM000673.1:g.6340413G= GRCh37
NC_000011.8:g.6296989G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.766C= MANE Select ENSP00000307292.3:p.Gln256=
ENST00000303927.3:c.766C= ENSP00000307292.3:p.Gln256=
ENST00000524852.1:n.552C=
ENST00000530979.1:c.862C= ENSP00000432047.1:p.Gln288=
ENST00000532354.1:n.788C=
NM_145040.2:c.766C= NP_659477.2:p.Gln256=
XR_930997.1:n.720+963G=
XR_242848.4:n.43G=
NM_145040.3:c.766C= MANE Select NP_659477.2:p.Gln256=