Canonical Allele Identifier: CA379352668

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319555-C-A
• MyVariant Identifiers: chr11:g.6340785C>A (hg19) ; chr11:g.6319555C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319555C>A , CM000673.2:g.6319555C>A	GRCh38
NC_000011.9:g.6340785C>A , CM000673.1:g.6340785C>A	GRCh37
NC_000011.8:g.6297361C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.394G>T MANE Select	ENSP00000307292.3:p.Glu132Ter
ENST00000303927.3:c.394G>T	ENSP00000307292.3:p.Glu132Ter
ENST00000524852.1:n.180G>T
ENST00000530979.1:c.490G>T	ENSP00000432047.1:p.Glu164Ter
ENST00000532354.1:n.416G>T
NM_145040.2:c.394G>T	NP_659477.2:p.Glu132Ter
XR_930997.1:n.720+1335C>A
XR_001748105.2:n.13C>A
XR_001748106.1:n.166C>A
XR_001748108.2:n.13C>A
XR_001748109.2:n.22C>A
XR_242848.4:n.415C>A
XR_930992.3:n.13C>A
XR_930994.3:n.13C>A
XR_930995.3:n.13C>A
XR_930998.3:n.13C>A
NM_145040.3:c.394G>T MANE Select	NP_659477.2:p.Glu132Ter