Canonical Allele Identifier: CA1950112659
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319424G= , CM000673.2:g.6319424G= GRCh38
NC_000011.9:g.6340654G= , CM000673.1:g.6340654G= GRCh37
NC_000011.8:g.6297230G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.525C= MANE Select ENSP00000307292.3:p.Ala175=
ENST00000303927.3:c.525C= ENSP00000307292.3:p.Ala175=
ENST00000524852.1:n.311C=
ENST00000530979.1:c.621C= ENSP00000432047.1:p.Ala207=
ENST00000532354.1:n.547C=
NM_145040.2:c.525C= NP_659477.2:p.Ala175=
XR_930997.1:n.720+1204G=
XR_001748106.1:n.35G=
XR_242848.4:n.284G=
NM_145040.3:c.525C= MANE Select NP_659477.2:p.Ala175=