Canonical Allele Identifier: CA1950112838
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319724A= , CM000673.2:g.6319724A= GRCh38
NC_000011.9:g.6340954A= , CM000673.1:g.6340954A= GRCh37
NC_000011.8:g.6297530A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-160T= MANE Select ENSP00000307292.3:n.385-160T=
ENST00000303927.3:c.385-160T= ENSP00000307292.3:n.385-160T=
ENST00000524852.1:n.64-53T=
ENST00000530979.1:c.413T= ENSP00000432047.1:p.Val138=
ENST00000532354.1:n.339T=
NM_145040.2:c.385-160T= NP_659477.2:n.385-160T=
XR_242848.3:n.136+27A=
XR_242849.3:n.136+27A=
XR_428874.2:n.136+27A=
XR_930992.1:n.136+27A=
XR_930994.1:n.136+27A=
XR_930995.1:n.136+27A=
XR_930996.1:n.136+27A=
XR_930997.1:n.720+1504A=
XR_930998.1:n.136+27A=
XR_930999.1:n.136+27A=
XR_001748105.2:n.155+27A=
XR_001748106.1:n.308+27A=
XR_001748108.2:n.155+27A=
XR_001748109.2:n.164+27A=
XR_242848.4:n.557+27A=
XR_930992.3:n.155+27A=
XR_930994.3:n.155+27A=
XR_930995.3:n.155+27A=
XR_930998.3:n.155+27A=
NM_145040.3:c.385-160T= MANE Select NP_659477.2:n.385-160T=