Canonical Allele Identifier: CA472908974
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340708C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319478C>T , CM000673.2:g.6319478C>T GRCh38
NC_000011.9:g.6340708C>T , CM000673.1:g.6340708C>T GRCh37
NC_000011.8:g.6297284C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.471G>A MANE Select ENSP00000307292.3:p.Gln157=
ENST00000303927.3:c.471G>A ENSP00000307292.3:p.Gln157=
ENST00000524852.1:n.257G>A
ENST00000530979.1:c.567G>A ENSP00000432047.1:p.Gln189=
ENST00000532354.1:n.493G>A
NM_145040.2:c.471G>A NP_659477.2:p.Gln157=
XR_930997.1:n.720+1258C>T
XR_001748106.1:n.89C>T
XR_242848.4:n.338C>T
NM_145040.3:c.471G>A MANE Select NP_659477.2:p.Gln157=