Canonical Allele Identifier: CA2612219156

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319875-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319875G>T , CM000673.2:g.6319875G>T	GRCh38
NC_000011.9:g.6341105G>T , CM000673.1:g.6341105G>T	GRCh37
NC_000011.8:g.6297681G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.384+218C>A MANE Select	ENSP00000307292.3:n.384+218C>A
ENST00000303927.3:c.384+218C>A	ENSP00000307292.3:n.384+218C>A
ENST00000524852.1:n.64-204C>A
ENST00000530979.1:c.385-123C>A	ENSP00000432047.1:n.385-123C>A
ENST00000532354.1:n.188C>A
NM_145040.2:c.384+218C>A	NP_659477.2:n.384+218C>A
XR_242848.3:n.136+178G>T
XR_242849.3:n.136+178G>T
XR_428874.2:n.136+178G>T
XR_930992.1:n.136+178G>T
XR_930994.1:n.136+178G>T
XR_930995.1:n.136+178G>T
XR_930996.1:n.136+178G>T
XR_930997.1:n.720+1655G>T
XR_930998.1:n.136+178G>T
XR_930999.1:n.136+178G>T
XR_001748105.2:n.155+178G>T
XR_001748106.1:n.308+178G>T
XR_001748108.2:n.155+178G>T
XR_001748109.2:n.164+178G>T
XR_242848.4:n.557+178G>T
XR_930992.3:n.155+178G>T
XR_930994.3:n.155+178G>T
XR_930995.3:n.155+178G>T
XR_930998.3:n.155+178G>T
NM_145040.3:c.384+218C>A MANE Select	NP_659477.2:n.384+218C>A