Canonical Allele Identifier: CA1950112721

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319544G= , CM000673.2:g.6319544G=	GRCh38
NC_000011.9:g.6340774G= , CM000673.1:g.6340774G=	GRCh37
NC_000011.8:g.6297350G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.405C= MANE Select	ENSP00000307292.3:p.Ala135=
ENST00000303927.3:c.405C=	ENSP00000307292.3:p.Ala135=
ENST00000524852.1:n.191C=
ENST00000530979.1:c.501C=	ENSP00000432047.1:p.Ala167=
ENST00000532354.1:n.427C=
NM_145040.2:c.405C=	NP_659477.2:p.Ala135=
XR_930997.1:n.720+1324G=
XR_001748105.2:n.2G=
XR_001748106.1:n.155G=
XR_001748108.2:n.2G=
XR_001748109.2:n.11G=
XR_242848.4:n.404G=
XR_930992.3:n.2G=
XR_930994.3:n.2G=
XR_930995.3:n.2G=
XR_930998.3:n.2G=
NM_145040.3:c.405C= MANE Select	NP_659477.2:p.Ala135=