Canonical Allele Identifier: CA1950112748
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319591C= , CM000673.2:g.6319591C= GRCh38
NC_000011.9:g.6340821C= , CM000673.1:g.6340821C= GRCh37
NC_000011.8:g.6297397C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-27G= MANE Select ENSP00000307292.3:n.385-27G=
ENST00000303927.3:c.385-27G= ENSP00000307292.3:n.385-27G=
ENST00000524852.1:n.144G=
ENST00000530979.1:c.481-27G= ENSP00000432047.1:n.481-27G=
ENST00000532354.1:n.407-27G=
NM_145040.2:c.385-27G= NP_659477.2:n.385-27G=
XR_242848.3:n.30C=
XR_242849.3:n.30C=
XR_428874.2:n.30C=
XR_930992.1:n.30C=
XR_930994.1:n.30C=
XR_930995.1:n.30C=
XR_930996.1:n.30C=
XR_930997.1:n.720+1371C=
XR_930998.1:n.30C=
XR_930999.1:n.30C=
XR_001748105.2:n.49C=
XR_001748106.1:n.202C=
XR_001748108.2:n.49C=
XR_001748109.2:n.58C=
XR_242848.4:n.451C=
XR_930992.3:n.49C=
XR_930994.3:n.49C=
XR_930995.3:n.49C=
XR_930998.3:n.49C=
NM_145040.3:c.385-27G= MANE Select NP_659477.2:n.385-27G=