Canonical Allele Identifier: CA379352447
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.466G>A MANE Select ENSP00000307292.3:p.Glu156Lys
ENST00000303927.3:c.466G>A ENSP00000307292.3:p.Glu156Lys
ENST00000524852.1:n.252G>A
ENST00000530979.1:c.562G>A ENSP00000432047.1:p.Glu188Lys
ENST00000532354.1:n.488G>A
NM_145040.2:c.466G>A NP_659477.2:p.Glu156Lys
XR_930997.1:n.720+1263C>T
XR_001748106.1:n.94C>T
XR_242848.4:n.343C>T
NM_145040.3:c.466G>A MANE Select NP_659477.2:p.Glu156Lys