Canonical Allele Identifier: CA379352433
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319478C>G , CM000673.2:g.6319478C>G GRCh38
NC_000011.9:g.6340708C>G , CM000673.1:g.6340708C>G GRCh37
NC_000011.8:g.6297284C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.471G>C MANE Select ENSP00000307292.3:p.Gln157His
ENST00000303927.3:c.471G>C ENSP00000307292.3:p.Gln157His
ENST00000524852.1:n.257G>C
ENST00000530979.1:c.567G>C ENSP00000432047.1:p.Gln189His
ENST00000532354.1:n.493G>C
NM_145040.2:c.471G>C NP_659477.2:p.Gln157His
XR_930997.1:n.720+1258C>G
XR_001748106.1:n.89C>G
XR_242848.4:n.338C>G
NM_145040.3:c.471G>C MANE Select NP_659477.2:p.Gln157His