Canonical Allele Identifier: CA472720314
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340396G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319166G>T , CM000673.2:g.6319166G>T GRCh38
NC_000011.9:g.6340396G>T , CM000673.1:g.6340396G>T GRCh37
NC_000011.8:g.6296972G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.783C>A MANE Select ENSP00000307292.3:p.Ala261=
ENST00000303927.3:c.783C>A ENSP00000307292.3:p.Ala261=
ENST00000524852.1:n.569C>A
ENST00000530979.1:c.879C>A ENSP00000432047.1:p.Ala293=
ENST00000532354.1:n.805C>A
NM_145040.2:c.783C>A NP_659477.2:p.Ala261=
XR_930997.1:n.720+946G>T
XR_242848.4:n.26G>T
NM_145040.3:c.783C>A MANE Select NP_659477.2:p.Ala261=