Canonical Allele Identifier: CA5852180
Gene: CAVIN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2457166
ClinVar RCV Id: RCV004254309
dbSNP Id: rs371017691
ExAC: 11:6340405 C / G
gnomAD v2: 11-6340405-C-G
gnomAD v3: 11-6319175-C-G
gnomAD v4: 11-6319175-C-G
MyVariant Identifiers: chr11:g.6340405C>G (hg19) chr11:g.6319175C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319175C>G , CM000673.2:g.6319175C>G GRCh38
NC_000011.9:g.6340405C>G , CM000673.1:g.6340405C>G GRCh37
NC_000011.8:g.6296981C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.774G>C MANE Select ENSP00000307292.3:p.Glu258Asp
ENST00000303927.3:c.774G>C ENSP00000307292.3:p.Glu258Asp
ENST00000524852.1:n.560G>C
ENST00000530979.1:c.870G>C ENSP00000432047.1:p.Glu290Asp
ENST00000532354.1:n.796G>C
NM_145040.2:c.774G>C NP_659477.2:p.Glu258Asp
XR_930997.1:n.720+955C>G
XR_242848.4:n.35C>G
NM_145040.3:c.774G>C MANE Select NP_659477.2:p.Glu258Asp
Search 100 bp 5'
Search 100 bp 3'