Canonical Allele Identifier: CA379351665
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319165A>T , CM000673.2:g.6319165A>T GRCh38
NC_000011.9:g.6340395A>T , CM000673.1:g.6340395A>T GRCh37
NC_000011.8:g.6296971A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.784T>A MANE Select ENSP00000307292.3:p.Ter262Arg
ENST00000303927.3:c.784T>A ENSP00000307292.3:p.Ter262Arg
ENST00000524852.1:n.570T>A
ENST00000530979.1:c.880T>A ENSP00000432047.1:p.Ter294Arg
ENST00000532354.1:n.806T>A
NM_145040.2:c.784T>A NP_659477.2:p.Ter262Arg
XR_930997.1:n.720+945A>T
XR_242848.4:n.25A>T
NM_145040.3:c.784T>A MANE Select NP_659477.2:p.Ter262Arg