Canonical Allele Identifier: CA472720380
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340492C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319262C>T , CM000673.2:g.6319262C>T GRCh38
NC_000011.9:g.6340492C>T , CM000673.1:g.6340492C>T GRCh37
NC_000011.8:g.6297068C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.687G>A MANE Select ENSP00000307292.3:p.Glu229=
ENST00000303927.3:c.687G>A ENSP00000307292.3:p.Glu229=
ENST00000524852.1:n.473G>A
ENST00000530979.1:c.783G>A ENSP00000432047.1:p.Glu261=
ENST00000532354.1:n.709G>A
NM_145040.2:c.687G>A NP_659477.2:p.Glu229=
XR_930997.1:n.720+1042C>T
XR_242848.4:n.122C>T
NM_145040.3:c.687G>A MANE Select NP_659477.2:p.Glu229=