Canonical Allele Identifier: CA472908841

Gene: CAVIN3

Linked Data

• MyVariant Identifiers: chr11:g.6340612G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319382G>T , CM000673.2:g.6319382G>T	GRCh38
NC_000011.9:g.6340612G>T , CM000673.1:g.6340612G>T	GRCh37
NC_000011.8:g.6297188G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.567C>A MANE Select	ENSP00000307292.3:p.Leu189=
ENST00000303927.3:c.567C>A	ENSP00000307292.3:p.Leu189=
ENST00000524852.1:n.353C>A
ENST00000530979.1:c.663C>A	ENSP00000432047.1:p.Leu221=
ENST00000532354.1:n.589C>A
NM_145040.2:c.567C>A	NP_659477.2:p.Leu189=
XR_930997.1:n.720+1162G>T
XR_242848.4:n.242G>T
NM_145040.3:c.567C>A MANE Select	NP_659477.2:p.Leu189=