Canonical Allele Identifier: CA472908859
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340633T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319403T>C , CM000673.2:g.6319403T>C GRCh38
NC_000011.9:g.6340633T>C , CM000673.1:g.6340633T>C GRCh37
NC_000011.8:g.6297209T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.546A>G MANE Select ENSP00000307292.3:p.Gly182=
ENST00000303927.3:c.546A>G ENSP00000307292.3:p.Gly182=
ENST00000524852.1:n.332A>G
ENST00000530979.1:c.642A>G ENSP00000432047.1:p.Gly214=
ENST00000532354.1:n.568A>G
NM_145040.2:c.546A>G NP_659477.2:p.Gly182=
XR_930997.1:n.720+1183T>C
XR_001748106.1:n.14T>C
XR_242848.4:n.263T>C
NM_145040.3:c.546A>G MANE Select NP_659477.2:p.Gly182=