Canonical Allele Identifier: CA1950112647
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319396T= , CM000673.2:g.6319396T= GRCh38
NC_000011.9:g.6340626T= , CM000673.1:g.6340626T= GRCh37
NC_000011.8:g.6297202T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.553A= MANE Select ENSP00000307292.3:p.Lys185=
ENST00000303927.3:c.553A= ENSP00000307292.3:p.Lys185=
ENST00000524852.1:n.339A=
ENST00000530979.1:c.649A= ENSP00000432047.1:p.Lys217=
ENST00000532354.1:n.575A=
NM_145040.2:c.553A= NP_659477.2:p.Lys185=
XR_930997.1:n.720+1176T=
XR_001748106.1:n.7T=
XR_242848.4:n.256T=
NM_145040.3:c.553A= MANE Select NP_659477.2:p.Lys185=