Canonical Allele Identifier: CA1950112891
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319838G= , CM000673.2:g.6319838G= GRCh38
NC_000011.9:g.6341068G= , CM000673.1:g.6341068G= GRCh37
NC_000011.8:g.6297644G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.384+255C= MANE Select ENSP00000307292.3:n.384+255C=
ENST00000303927.3:c.384+255C= ENSP00000307292.3:n.384+255C=
ENST00000524852.1:n.64-167C=
ENST00000530979.1:c.385-86C= ENSP00000432047.1:n.385-86C=
ENST00000532354.1:n.225C=
NM_145040.2:c.384+255C= NP_659477.2:n.384+255C=
XR_242848.3:n.136+141G=
XR_242849.3:n.136+141G=
XR_428874.2:n.136+141G=
XR_930992.1:n.136+141G=
XR_930994.1:n.136+141G=
XR_930995.1:n.136+141G=
XR_930996.1:n.136+141G=
XR_930997.1:n.720+1618G=
XR_930998.1:n.136+141G=
XR_930999.1:n.136+141G=
XR_001748105.2:n.155+141G=
XR_001748106.1:n.308+141G=
XR_001748108.2:n.155+141G=
XR_001748109.2:n.164+141G=
XR_242848.4:n.557+141G=
XR_930992.3:n.155+141G=
XR_930994.3:n.155+141G=
XR_930995.3:n.155+141G=
XR_930998.3:n.155+141G=
NM_145040.3:c.384+255C= MANE Select NP_659477.2:n.384+255C=