Canonical Allele Identifier: CA379352191

Gene: CAVIN3

Linked Data

• MyVariant Identifiers: chr11:g.6340588T>A (hg19) ; chr11:g.6319358T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319358T>A , CM000673.2:g.6319358T>A	GRCh38
NC_000011.9:g.6340588T>A , CM000673.1:g.6340588T>A	GRCh37
NC_000011.8:g.6297164T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.591A>T MANE Select	ENSP00000307292.3:p.Lys197Asn
ENST00000303927.3:c.591A>T	ENSP00000307292.3:p.Lys197Asn
ENST00000524852.1:n.377A>T
ENST00000530979.1:c.687A>T	ENSP00000432047.1:p.Lys229Asn
ENST00000532354.1:n.613A>T
NM_145040.2:c.591A>T	NP_659477.2:p.Lys197Asn
XR_930997.1:n.720+1138T>A
XR_242848.4:n.218T>A
NM_145040.3:c.591A>T MANE Select	NP_659477.2:p.Lys197Asn