Canonical Allele Identifier: CA1950112543

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319220A= , CM000673.2:g.6319220A=	GRCh38
NC_000011.9:g.6340450A= , CM000673.1:g.6340450A=	GRCh37
NC_000011.8:g.6297026A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.729T= MANE Select	ENSP00000307292.3:p.Asp243=
ENST00000303927.3:c.729T=	ENSP00000307292.3:p.Asp243=
ENST00000524852.1:n.515T=
ENST00000530979.1:c.825T=	ENSP00000432047.1:p.Asp275=
ENST00000532354.1:n.751T=
NM_145040.2:c.729T=	NP_659477.2:p.Asp243=
XR_930997.1:n.720+1000A=
XR_242848.4:n.80A=
NM_145040.3:c.729T= MANE Select	NP_659477.2:p.Asp243=