Canonical Allele Identifier: CA379352341
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319434T>C , CM000673.2:g.6319434T>C GRCh38
NC_000011.9:g.6340664T>C , CM000673.1:g.6340664T>C GRCh37
NC_000011.8:g.6297240T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.515A>G MANE Select ENSP00000307292.3:p.Glu172Gly
ENST00000303927.3:c.515A>G ENSP00000307292.3:p.Glu172Gly
ENST00000524852.1:n.301A>G
ENST00000530979.1:c.611A>G ENSP00000432047.1:p.Glu204Gly
ENST00000532354.1:n.537A>G
NM_145040.2:c.515A>G NP_659477.2:p.Glu172Gly
XR_930997.1:n.720+1214T>C
XR_001748106.1:n.45T>C
XR_242848.4:n.294T>C
NM_145040.3:c.515A>G MANE Select NP_659477.2:p.Glu172Gly