Canonical Allele Identifier: CA1950112521
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319180T= , CM000673.2:g.6319180T= GRCh38
NC_000011.9:g.6340410T= , CM000673.1:g.6340410T= GRCh37
NC_000011.8:g.6296986T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.769A= MANE Select ENSP00000307292.3:p.Met257=
ENST00000303927.3:c.769A= ENSP00000307292.3:p.Met257=
ENST00000524852.1:n.555A=
ENST00000530979.1:c.865A= ENSP00000432047.1:p.Met289=
ENST00000532354.1:n.791A=
NM_145040.2:c.769A= NP_659477.2:p.Met257=
XR_930997.1:n.720+960T=
XR_242848.4:n.40T=
NM_145040.3:c.769A= MANE Select NP_659477.2:p.Met257=