Canonical Allele Identifier: CA472909137

Gene: CAVIN3

Linked Data

• MyVariant Identifiers: chr11:g.6340777T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319547T>G , CM000673.2:g.6319547T>G	GRCh38
NC_000011.9:g.6340777T>G , CM000673.1:g.6340777T>G	GRCh37
NC_000011.8:g.6297353T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.402A>C MANE Select	ENSP00000307292.3:p.Pro134=
ENST00000303927.3:c.402A>C	ENSP00000307292.3:p.Pro134=
ENST00000524852.1:n.188A>C
ENST00000530979.1:c.498A>C	ENSP00000432047.1:p.Pro166=
ENST00000532354.1:n.424A>C
NM_145040.2:c.402A>C	NP_659477.2:p.Pro134=
XR_930997.1:n.720+1327T>G
XR_001748105.2:n.5T>G
XR_001748106.1:n.158T>G
XR_001748108.2:n.5T>G
XR_001748109.2:n.14T>G
XR_242848.4:n.407T>G
XR_930992.3:n.5T>G
XR_930994.3:n.5T>G
XR_930995.3:n.5T>G
XR_930998.3:n.5T>G
NM_145040.3:c.402A>C MANE Select	NP_659477.2:p.Pro134=