Canonical Allele Identifier: CA1950112635

Gene: CAVIN3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.566T= MANE Select	ENSP00000307292.3:p.Leu189=
ENST00000303927.3:c.566T=	ENSP00000307292.3:p.Leu189=
ENST00000524852.1:n.352T=
ENST00000530979.1:c.662T=	ENSP00000432047.1:p.Leu221=
ENST00000532354.1:n.588T=
NM_145040.2:c.566T=	NP_659477.2:p.Leu189=
XR_930997.1:n.720+1163A=
XR_242848.4:n.243A=
NM_145040.3:c.566T= MANE Select	NP_659477.2:p.Leu189=