Canonical Allele Identifier: CA1950112815
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319690G= , CM000673.2:g.6319690G= GRCh38
NC_000011.9:g.6340920G= , CM000673.1:g.6340920G= GRCh37
NC_000011.8:g.6297496G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-126C= MANE Select ENSP00000307292.3:n.385-126C=
ENST00000303927.3:c.385-126C= ENSP00000307292.3:n.385-126C=
ENST00000524852.1:n.64-19C=
ENST00000530979.1:c.447C= ENSP00000432047.1:p.His149=
ENST00000532354.1:n.373C=
NM_145040.2:c.385-126C= NP_659477.2:n.385-126C=
XR_242848.3:n.129G=
XR_242849.3:n.129G=
XR_428874.2:n.129G=
XR_930992.1:n.129G=
XR_930994.1:n.129G=
XR_930995.1:n.129G=
XR_930996.1:n.129G=
XR_930997.1:n.720+1470G=
XR_930998.1:n.129G=
XR_930999.1:n.129G=
XR_001748105.2:n.148G=
XR_001748106.1:n.301G=
XR_001748108.2:n.148G=
XR_001748109.2:n.157G=
XR_242848.4:n.550G=
XR_930992.3:n.148G=
XR_930994.3:n.148G=
XR_930995.3:n.148G=
XR_930998.3:n.148G=
NM_145040.3:c.385-126C= MANE Select NP_659477.2:n.385-126C=