Canonical Allele Identifier: CA379351725

Gene: CAVIN3

Linked Data

• MyVariant Identifiers: chr11:g.6340407C>A (hg19) ; chr11:g.6319177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319177C>A , CM000673.2:g.6319177C>A	GRCh38
NC_000011.9:g.6340407C>A , CM000673.1:g.6340407C>A	GRCh37
NC_000011.8:g.6296983C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.772G>T MANE Select	ENSP00000307292.3:p.Glu258Ter
ENST00000303927.3:c.772G>T	ENSP00000307292.3:p.Glu258Ter
ENST00000524852.1:n.558G>T
ENST00000530979.1:c.868G>T	ENSP00000432047.1:p.Glu290Ter
ENST00000532354.1:n.794G>T
NM_145040.2:c.772G>T	NP_659477.2:p.Glu258Ter
XR_930997.1:n.720+957C>A
XR_242848.4:n.37C>A
NM_145040.3:c.772G>T MANE Select	NP_659477.2:p.Glu258Ter