Canonical Allele Identifier: CA379352440
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319481-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319481C>A , CM000673.2:g.6319481C>A GRCh38
NC_000011.9:g.6340711C>A , CM000673.1:g.6340711C>A GRCh37
NC_000011.8:g.6297287C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.468G>T MANE Select ENSP00000307292.3:p.Glu156Asp
ENST00000303927.3:c.468G>T ENSP00000307292.3:p.Glu156Asp
ENST00000524852.1:n.254G>T
ENST00000530979.1:c.564G>T ENSP00000432047.1:p.Glu188Asp
ENST00000532354.1:n.490G>T
NM_145040.2:c.468G>T NP_659477.2:p.Glu156Asp
XR_930997.1:n.720+1261C>A
XR_001748106.1:n.92C>A
XR_242848.4:n.341C>A
NM_145040.3:c.468G>T MANE Select NP_659477.2:p.Glu156Asp