Canonical Allele Identifier: CA379352836
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319670G>A , CM000673.2:g.6319670G>A GRCh38
NC_000011.9:g.6340900G>A , CM000673.1:g.6340900G>A GRCh37
NC_000011.8:g.6297476G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-106C>T MANE Select ENSP00000307292.3:n.385-106C>T
ENST00000303927.3:c.385-106C>T ENSP00000307292.3:n.385-106C>T
ENST00000524852.1:n.65C>T
ENST00000530979.1:c.467C>T ENSP00000432047.1:p.Thr156Ile
ENST00000532354.1:n.393C>T
NM_145040.2:c.385-106C>T NP_659477.2:n.385-106C>T
XR_242848.3:n.109G>A
XR_242849.3:n.109G>A
XR_428874.2:n.109G>A
XR_930992.1:n.109G>A
XR_930994.1:n.109G>A
XR_930995.1:n.109G>A
XR_930996.1:n.109G>A
XR_930997.1:n.720+1450G>A
XR_930998.1:n.109G>A
XR_930999.1:n.109G>A
XR_001748105.2:n.128G>A
XR_001748106.1:n.281G>A
XR_001748108.2:n.128G>A
XR_001748109.2:n.137G>A
XR_242848.4:n.530G>A
XR_930992.3:n.128G>A
XR_930994.3:n.128G>A
XR_930995.3:n.128G>A
XR_930998.3:n.128G>A
NM_145040.3:c.385-106C>T MANE Select NP_659477.2:n.385-106C>T