Canonical Allele Identifier: CA379352077
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs961288525

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319298G>C , CM000673.2:g.6319298G>C GRCh38
NC_000011.9:g.6340528G>C , CM000673.1:g.6340528G>C GRCh37
NC_000011.8:g.6297104G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.651C>G MANE Select ENSP00000307292.3:p.Ser217Arg
ENST00000303927.3:c.651C>G ENSP00000307292.3:p.Ser217Arg
ENST00000524852.1:n.437C>G
ENST00000530979.1:c.747C>G ENSP00000432047.1:p.Ser249Arg
ENST00000532354.1:n.673C>G
NM_145040.2:c.651C>G NP_659477.2:p.Ser217Arg
XR_930997.1:n.720+1078G>C
XR_242848.4:n.158G>C
NM_145040.3:c.651C>G MANE Select NP_659477.2:p.Ser217Arg