Canonical Allele Identifier: CA1950112524

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319184G= , CM000673.2:g.6319184G=	GRCh38
NC_000011.9:g.6340414G= , CM000673.1:g.6340414G=	GRCh37
NC_000011.8:g.6296990G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.765C= MANE Select	ENSP00000307292.3:p.Leu255=
ENST00000303927.3:c.765C=	ENSP00000307292.3:p.Leu255=
ENST00000524852.1:n.551C=
ENST00000530979.1:c.861C=	ENSP00000432047.1:p.Leu287=
ENST00000532354.1:n.787C=
NM_145040.2:c.765C=	NP_659477.2:p.Leu255=
XR_930997.1:n.720+964G=
XR_242848.4:n.44G=
NM_145040.3:c.765C= MANE Select	NP_659477.2:p.Leu255=