Canonical Allele Identifier: CA5852179
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs768834754
ExAC: 11:6340404 T / C
gnomAD v2: 11-6340404-T-C
gnomAD v3: 11-6319174-T-C
gnomAD v4: 11-6319174-T-C
MyVariant Identifiers: chr11:g.6340404T>C (hg19) chr11:g.6319174T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319174T>C , CM000673.2:g.6319174T>C GRCh38
NC_000011.9:g.6340404T>C , CM000673.1:g.6340404T>C GRCh37
NC_000011.8:g.6296980T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.775A>G MANE Select ENSP00000307292.3:p.Ser259Gly
ENST00000303927.3:c.775A>G ENSP00000307292.3:p.Ser259Gly
ENST00000524852.1:n.561A>G
ENST00000530979.1:c.871A>G ENSP00000432047.1:p.Ser291Gly
ENST00000532354.1:n.797A>G
NM_145040.2:c.775A>G NP_659477.2:p.Ser259Gly
XR_930997.1:n.720+954T>C
XR_242848.4:n.34T>C
NM_145040.3:c.775A>G MANE Select NP_659477.2:p.Ser259Gly
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