Canonical Allele Identifier: CA472720423
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340546G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319316G>A , CM000673.2:g.6319316G>A GRCh38
NC_000011.9:g.6340546G>A , CM000673.1:g.6340546G>A GRCh37
NC_000011.8:g.6297122G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.633C>T MANE Select ENSP00000307292.3:p.Arg211=
ENST00000303927.3:c.633C>T ENSP00000307292.3:p.Arg211=
ENST00000524852.1:n.419C>T
ENST00000530979.1:c.729C>T ENSP00000432047.1:p.Arg243=
ENST00000532354.1:n.655C>T
NM_145040.2:c.633C>T NP_659477.2:p.Arg211=
XR_930997.1:n.720+1096G>A
XR_242848.4:n.176G>A
NM_145040.3:c.633C>T MANE Select NP_659477.2:p.Arg211=