Canonical Allele Identifier: CA653943793
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319769A>T , CM000673.2:g.6319769A>T GRCh38
NC_000011.9:g.6340999A>T , CM000673.1:g.6340999A>T GRCh37
NC_000011.8:g.6297575A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-205T>A MANE Select ENSP00000307292.3:n.385-205T>A
ENST00000303927.3:c.385-205T>A ENSP00000307292.3:n.385-205T>A
ENST00000524852.1:n.64-98T>A
ENST00000530979.1:c.385-17T>A ENSP00000432047.1:n.385-17T>A
ENST00000532354.1:n.294T>A
NM_145040.2:c.385-205T>A NP_659477.2:n.385-205T>A
XR_242848.3:n.136+72A>T
XR_242849.3:n.136+72A>T
XR_428874.2:n.136+72A>T
XR_930992.1:n.136+72A>T
XR_930994.1:n.136+72A>T
XR_930995.1:n.136+72A>T
XR_930996.1:n.136+72A>T
XR_930997.1:n.720+1549A>T
XR_930998.1:n.136+72A>T
XR_930999.1:n.136+72A>T
XR_001748105.2:n.155+72A>T
XR_001748106.1:n.308+72A>T
XR_001748108.2:n.155+72A>T
XR_001748109.2:n.164+72A>T
XR_242848.4:n.557+72A>T
XR_930992.3:n.155+72A>T
XR_930994.3:n.155+72A>T
XR_930995.3:n.155+72A>T
XR_930998.3:n.155+72A>T
NM_145040.3:c.385-205T>A MANE Select NP_659477.2:n.385-205T>A