Canonical Allele Identifier: CA1950112541
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319218G= , CM000673.2:g.6319218G= GRCh38
NC_000011.9:g.6340448G= , CM000673.1:g.6340448G= GRCh37
NC_000011.8:g.6297024G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.731C= MANE Select ENSP00000307292.3:p.Pro244=
ENST00000303927.3:c.731C= ENSP00000307292.3:p.Pro244=
ENST00000524852.1:n.517C=
ENST00000530979.1:c.827C= ENSP00000432047.1:p.Pro276=
ENST00000532354.1:n.753C=
NM_145040.2:c.731C= NP_659477.2:p.Pro244=
XR_930997.1:n.720+998G=
XR_242848.4:n.78G=
NM_145040.3:c.731C= MANE Select NP_659477.2:p.Pro244=