Canonical Allele Identifier: CA1950112808
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319680A= , CM000673.2:g.6319680A= GRCh38
NC_000011.9:g.6340910A= , CM000673.1:g.6340910A= GRCh37
NC_000011.8:g.6297486A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-116T= MANE Select ENSP00000307292.3:n.385-116T=
ENST00000303927.3:c.385-116T= ENSP00000307292.3:n.385-116T=
ENST00000524852.1:n.64-9T=
ENST00000530979.1:c.457T= ENSP00000432047.1:p.Ser153=
ENST00000532354.1:n.383T=
NM_145040.2:c.385-116T= NP_659477.2:n.385-116T=
XR_242848.3:n.119A=
XR_242849.3:n.119A=
XR_428874.2:n.119A=
XR_930992.1:n.119A=
XR_930994.1:n.119A=
XR_930995.1:n.119A=
XR_930996.1:n.119A=
XR_930997.1:n.720+1460A=
XR_930998.1:n.119A=
XR_930999.1:n.119A=
XR_001748105.2:n.138A=
XR_001748106.1:n.291A=
XR_001748108.2:n.138A=
XR_001748109.2:n.147A=
XR_242848.4:n.540A=
XR_930992.3:n.138A=
XR_930994.3:n.138A=
XR_930995.3:n.138A=
XR_930998.3:n.138A=
NM_145040.3:c.385-116T= MANE Select NP_659477.2:n.385-116T=