Canonical Allele Identifier: CA2612218978

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319613-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319613C>A , CM000673.2:g.6319613C>A	GRCh38
NC_000011.9:g.6340843C>A , CM000673.1:g.6340843C>A	GRCh37
NC_000011.8:g.6297419C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-49G>T MANE Select	ENSP00000307292.3:n.385-49G>T
ENST00000303927.3:c.385-49G>T	ENSP00000307292.3:n.385-49G>T
ENST00000524852.1:n.122G>T
ENST00000530979.1:c.480+44G>T	ENSP00000432047.1:n.480+44G>T
ENST00000532354.1:n.406+44G>T
NM_145040.2:c.385-49G>T	NP_659477.2:n.385-49G>T
XR_242848.3:n.52C>A
XR_242849.3:n.52C>A
XR_428874.2:n.52C>A
XR_930992.1:n.52C>A
XR_930994.1:n.52C>A
XR_930995.1:n.52C>A
XR_930996.1:n.52C>A
XR_930997.1:n.720+1393C>A
XR_930998.1:n.52C>A
XR_930999.1:n.52C>A
XR_001748105.2:n.71C>A
XR_001748106.1:n.224C>A
XR_001748108.2:n.71C>A
XR_001748109.2:n.80C>A
XR_242848.4:n.473C>A
XR_930992.3:n.71C>A
XR_930994.3:n.71C>A
XR_930995.3:n.71C>A
XR_930998.3:n.71C>A
NM_145040.3:c.385-49G>T MANE Select	NP_659477.2:n.385-49G>T