Canonical Allele Identifier: CA379352331
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319429-T-C
MyVariant Identifiers: chr11:g.6340659T>C (hg19) chr11:g.6319429T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319429T>C , CM000673.2:g.6319429T>C GRCh38
NC_000011.9:g.6340659T>C , CM000673.1:g.6340659T>C GRCh37
NC_000011.8:g.6297235T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.520A>G MANE Select ENSP00000307292.3:p.Arg174Gly
ENST00000303927.3:c.520A>G ENSP00000307292.3:p.Arg174Gly
ENST00000524852.1:n.306A>G
ENST00000530979.1:c.616A>G ENSP00000432047.1:p.Arg206Gly
ENST00000532354.1:n.542A>G
NM_145040.2:c.520A>G NP_659477.2:p.Arg174Gly
XR_930997.1:n.720+1209T>C
XR_001748106.1:n.40T>C
XR_242848.4:n.289T>C
NM_145040.3:c.520A>G MANE Select NP_659477.2:p.Arg174Gly
Search 100 bp 5'
Search 100 bp 3'