Canonical Allele Identifier: CA1950112583
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319288G= , CM000673.2:g.6319288G= GRCh38
NC_000011.9:g.6340518G= , CM000673.1:g.6340518G= GRCh37
NC_000011.8:g.6297094G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.661C= MANE Select ENSP00000307292.3:p.Gln221=
ENST00000303927.3:c.661C= ENSP00000307292.3:p.Gln221=
ENST00000524852.1:n.447C=
ENST00000530979.1:c.757C= ENSP00000432047.1:p.Gln253=
ENST00000532354.1:n.683C=
NM_145040.2:c.661C= NP_659477.2:p.Gln221=
XR_930997.1:n.720+1068G=
XR_242848.4:n.148G=
NM_145040.3:c.661C= MANE Select NP_659477.2:p.Gln221=