Canonical Allele Identifier: CA379352236
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319383A>G , CM000673.2:g.6319383A>G GRCh38
NC_000011.9:g.6340613A>G , CM000673.1:g.6340613A>G GRCh37
NC_000011.8:g.6297189A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.566T>C MANE Select ENSP00000307292.3:p.Leu189Pro
ENST00000303927.3:c.566T>C ENSP00000307292.3:p.Leu189Pro
ENST00000524852.1:n.352T>C
ENST00000530979.1:c.662T>C ENSP00000432047.1:p.Leu221Pro
ENST00000532354.1:n.588T>C
NM_145040.2:c.566T>C NP_659477.2:p.Leu189Pro
XR_930997.1:n.720+1163A>G
XR_242848.4:n.243A>G
NM_145040.3:c.566T>C MANE Select NP_659477.2:p.Leu189Pro