Canonical Allele Identifier: CA1950112655

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319417G= , CM000673.2:g.6319417G=	GRCh38
NC_000011.9:g.6340647G= , CM000673.1:g.6340647G=	GRCh37
NC_000011.8:g.6297223G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.532C= MANE Select	ENSP00000307292.3:p.Leu178=
ENST00000303927.3:c.532C=	ENSP00000307292.3:p.Leu178=
ENST00000524852.1:n.318C=
ENST00000530979.1:c.628C=	ENSP00000432047.1:p.Leu210=
ENST00000532354.1:n.554C=
NM_145040.2:c.532C=	NP_659477.2:p.Leu178=
XR_930997.1:n.720+1197G=
XR_001748106.1:n.28G=
XR_242848.4:n.277G=
NM_145040.3:c.532C= MANE Select	NP_659477.2:p.Leu178=