Canonical Allele Identifier: CA379351978
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319248G>T , CM000673.2:g.6319248G>T GRCh38
NC_000011.9:g.6340478G>T , CM000673.1:g.6340478G>T GRCh37
NC_000011.8:g.6297054G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.701C>A MANE Select ENSP00000307292.3:p.Pro234Gln
ENST00000303927.3:c.701C>A ENSP00000307292.3:p.Pro234Gln
ENST00000524852.1:n.487C>A
ENST00000530979.1:c.797C>A ENSP00000432047.1:p.Pro266Gln
ENST00000532354.1:n.723C>A
NM_145040.2:c.701C>A NP_659477.2:p.Pro234Gln
XR_930997.1:n.720+1028G>T
XR_242848.4:n.108G>T
NM_145040.3:c.701C>A MANE Select NP_659477.2:p.Pro234Gln