Canonical Allele Identifier: CA1950112545

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319226C= , CM000673.2:g.6319226C=	GRCh38
NC_000011.9:g.6340456C= , CM000673.1:g.6340456C=	GRCh37
NC_000011.8:g.6297032C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.723G= MANE Select	ENSP00000307292.3:p.Glu241=
ENST00000303927.3:c.723G=	ENSP00000307292.3:p.Glu241=
ENST00000524852.1:n.509G=
ENST00000530979.1:c.819G=	ENSP00000432047.1:p.Glu273=
ENST00000532354.1:n.745G=
NM_145040.2:c.723G=	NP_659477.2:p.Glu241=
XR_930997.1:n.720+1006C=
XR_242848.4:n.86C=
NM_145040.3:c.723G= MANE Select	NP_659477.2:p.Glu241=