Canonical Allele Identifier: CA5852252
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs140523064
gnomAD v2: 11-6340694-A-C
gnomAD v3: 11-6319464-A-C
gnomAD v4: 11-6319464-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319464A>C , CM000673.2:g.6319464A>C GRCh38
NC_000011.9:g.6340694A>C , CM000673.1:g.6340694A>C GRCh37
NC_000011.8:g.6297270A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.485T>G MANE Select ENSP00000307292.3:p.Val162Gly
ENST00000303927.3:c.485T>G ENSP00000307292.3:p.Val162Gly
ENST00000524852.1:n.271T>G
ENST00000530979.1:c.581T>G ENSP00000432047.1:p.Val194Gly
ENST00000532354.1:n.507T>G
NM_145040.2:c.485T>G NP_659477.2:p.Val162Gly
XR_930997.1:n.720+1244A>C
XR_001748106.1:n.75A>C
XR_242848.4:n.324A>C
NM_145040.3:c.485T>G MANE Select NP_659477.2:p.Val162Gly