Canonical Allele Identifier: CA379351972
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319244C>G , CM000673.2:g.6319244C>G GRCh38
NC_000011.9:g.6340474C>G , CM000673.1:g.6340474C>G GRCh37
NC_000011.8:g.6297050C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.705G>C MANE Select ENSP00000307292.3:p.Glu235Asp
ENST00000303927.3:c.705G>C ENSP00000307292.3:p.Glu235Asp
ENST00000524852.1:n.491G>C
ENST00000530979.1:c.801G>C ENSP00000432047.1:p.Glu267Asp
ENST00000532354.1:n.727G>C
NM_145040.2:c.705G>C NP_659477.2:p.Glu235Asp
XR_930997.1:n.720+1024C>G
XR_242848.4:n.104C>G
NM_145040.3:c.705G>C MANE Select NP_659477.2:p.Glu235Asp