Canonical Allele Identifier: CA2612219036

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319750-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319750G>A , CM000673.2:g.6319750G>A	GRCh38
NC_000011.9:g.6340980G>A , CM000673.1:g.6340980G>A	GRCh37
NC_000011.8:g.6297556G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-186C>T MANE Select	ENSP00000307292.3:n.385-186C>T
ENST00000303927.3:c.385-186C>T	ENSP00000307292.3:n.385-186C>T
ENST00000524852.1:n.64-79C>T
ENST00000530979.1:c.387C>T	ENSP00000432047.1:p.Ala129=
ENST00000532354.1:n.313C>T
NM_145040.2:c.385-186C>T	NP_659477.2:n.385-186C>T
XR_242848.3:n.136+53G>A
XR_242849.3:n.136+53G>A
XR_428874.2:n.136+53G>A
XR_930992.1:n.136+53G>A
XR_930994.1:n.136+53G>A
XR_930995.1:n.136+53G>A
XR_930996.1:n.136+53G>A
XR_930997.1:n.720+1530G>A
XR_930998.1:n.136+53G>A
XR_930999.1:n.136+53G>A
XR_001748105.2:n.155+53G>A
XR_001748106.1:n.308+53G>A
XR_001748108.2:n.155+53G>A
XR_001748109.2:n.164+53G>A
XR_242848.4:n.557+53G>A
XR_930992.3:n.155+53G>A
XR_930994.3:n.155+53G>A
XR_930995.3:n.155+53G>A
XR_930998.3:n.155+53G>A
NM_145040.3:c.385-186C>T MANE Select	NP_659477.2:n.385-186C>T