Canonical Allele Identifier: CA1950112575

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319279C= , CM000673.2:g.6319279C=	GRCh38
NC_000011.9:g.6340509C= , CM000673.1:g.6340509C=	GRCh37
NC_000011.8:g.6297085C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.670G= MANE Select	ENSP00000307292.3:p.Ala224=
ENST00000303927.3:c.670G=	ENSP00000307292.3:p.Ala224=
ENST00000524852.1:n.456G=
ENST00000530979.1:c.766G=	ENSP00000432047.1:p.Ala256=
ENST00000532354.1:n.692G=
NM_145040.2:c.670G=	NP_659477.2:p.Ala224=
XR_930997.1:n.720+1059C=
XR_242848.4:n.139C=
NM_145040.3:c.670G= MANE Select	NP_659477.2:p.Ala224=