Canonical Allele Identifier: CA2790307739

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319831G>T , CM000673.2:g.6319831G>T	GRCh38
NC_000011.9:g.6341061G>T , CM000673.1:g.6341061G>T	GRCh37
NC_000011.8:g.6297637G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.384+262C>A MANE Select	ENSP00000307292.3:n.384+262C>A
ENST00000303927.3:c.384+262C>A	ENSP00000307292.3:n.384+262C>A
ENST00000524852.1:n.64-160C>A
ENST00000530979.1:c.385-79C>A	ENSP00000432047.1:n.385-79C>A
ENST00000532354.1:n.232C>A
NM_145040.2:c.384+262C>A	NP_659477.2:n.384+262C>A
XR_242848.3:n.136+134G>T
XR_242849.3:n.136+134G>T
XR_428874.2:n.136+134G>T
XR_930992.1:n.136+134G>T
XR_930994.1:n.136+134G>T
XR_930995.1:n.136+134G>T
XR_930996.1:n.136+134G>T
XR_930997.1:n.720+1611G>T
XR_930998.1:n.136+134G>T
XR_930999.1:n.136+134G>T
XR_001748105.2:n.155+134G>T
XR_001748106.1:n.308+134G>T
XR_001748108.2:n.155+134G>T
XR_001748109.2:n.164+134G>T
XR_242848.4:n.557+134G>T
XR_930992.3:n.155+134G>T
XR_930994.3:n.155+134G>T
XR_930995.3:n.155+134G>T
XR_930998.3:n.155+134G>T
NM_145040.3:c.384+262C>A MANE Select	NP_659477.2:n.384+262C>A