Canonical Allele Identifier: CA379352415
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319470G>C , CM000673.2:g.6319470G>C GRCh38
NC_000011.9:g.6340700G>C , CM000673.1:g.6340700G>C GRCh37
NC_000011.8:g.6297276G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.479C>G MANE Select ENSP00000307292.3:p.Ala160Gly
ENST00000303927.3:c.479C>G ENSP00000307292.3:p.Ala160Gly
ENST00000524852.1:n.265C>G
ENST00000530979.1:c.575C>G ENSP00000432047.1:p.Ala192Gly
ENST00000532354.1:n.501C>G
NM_145040.2:c.479C>G NP_659477.2:p.Ala160Gly
XR_930997.1:n.720+1250G>C
XR_001748106.1:n.81G>C
XR_242848.4:n.330G>C
NM_145040.3:c.479C>G MANE Select NP_659477.2:p.Ala160Gly