Canonical Allele Identifier: CA379351988
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319252-C-G
MyVariant Identifiers: chr11:g.6340482C>G (hg19) chr11:g.6319252C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319252C>G , CM000673.2:g.6319252C>G GRCh38
NC_000011.9:g.6340482C>G , CM000673.1:g.6340482C>G GRCh37
NC_000011.8:g.6297058C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.697G>C MANE Select ENSP00000307292.3:p.Glu233Gln
ENST00000303927.3:c.697G>C ENSP00000307292.3:p.Glu233Gln
ENST00000524852.1:n.483G>C
ENST00000530979.1:c.793G>C ENSP00000432047.1:p.Glu265Gln
ENST00000532354.1:n.719G>C
NM_145040.2:c.697G>C NP_659477.2:p.Glu233Gln
XR_930997.1:n.720+1032C>G
XR_242848.4:n.112C>G
NM_145040.3:c.697G>C MANE Select NP_659477.2:p.Glu233Gln
Search 100 bp 5'
Search 100 bp 3'