Canonical Allele Identifier: CA379352446
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319483C>G , CM000673.2:g.6319483C>G GRCh38
NC_000011.9:g.6340713C>G , CM000673.1:g.6340713C>G GRCh37
NC_000011.8:g.6297289C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.466G>C MANE Select ENSP00000307292.3:p.Glu156Gln
ENST00000303927.3:c.466G>C ENSP00000307292.3:p.Glu156Gln
ENST00000524852.1:n.252G>C
ENST00000530979.1:c.562G>C ENSP00000432047.1:p.Glu188Gln
ENST00000532354.1:n.488G>C
NM_145040.2:c.466G>C NP_659477.2:p.Glu156Gln
XR_930997.1:n.720+1263C>G
XR_001748106.1:n.94C>G
XR_242848.4:n.343C>G
NM_145040.3:c.466G>C MANE Select NP_659477.2:p.Glu156Gln