Canonical Allele Identifier: CA379352010

Gene: CAVIN3

Linked Data

• dbSNP Id: rs538451811
• MyVariant Identifiers: chr11:g.6340494C>T (hg19) ; chr11:g.6319264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319264C>T , CM000673.2:g.6319264C>T	GRCh38
NC_000011.9:g.6340494C>T , CM000673.1:g.6340494C>T	GRCh37
NC_000011.8:g.6297070C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.685G>A MANE Select	ENSP00000307292.3:p.Glu229Lys
ENST00000303927.3:c.685G>A	ENSP00000307292.3:p.Glu229Lys
ENST00000524852.1:n.471G>A
ENST00000530979.1:c.781G>A	ENSP00000432047.1:p.Glu261Lys
ENST00000532354.1:n.707G>A
NM_145040.2:c.685G>A	NP_659477.2:p.Glu229Lys
XR_930997.1:n.720+1044C>T
XR_242848.4:n.124C>T
NM_145040.3:c.685G>A MANE Select	NP_659477.2:p.Glu229Lys