Canonical Allele Identifier: CA1950112498
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319145G= , CM000673.2:g.6319145G= GRCh38
NC_000011.9:g.6340375G= , CM000673.1:g.6340375G= GRCh37
NC_000011.8:g.6296951G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*18C= MANE Select ENSP00000307292.3:n.*18C=
ENST00000303927.3:c.*18C= ENSP00000307292.3:n.*18C=
ENST00000524852.1:n.590C=
ENST00000530979.1:c.*18C= ENSP00000432047.1:n.*18C=
ENST00000532354.1:n.826C=
NM_145040.2:c.*18C= NP_659477.2:n.*18C=
XR_930997.1:n.720+925G=
XR_242848.4:n.5G=
NM_145040.3:c.*18C= MANE Select NP_659477.2:n.*18C=