Canonical Allele Identifier: CA5852239
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs531215074
ExAC: 11:6340624 C / T
gnomAD v2: 11-6340624-C-T
gnomAD v3: 11-6319394-C-T
gnomAD v4: 11-6319394-C-T
MyVariant Identifiers: chr11:g.6340624C>T (hg19) chr11:g.6319394C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319394C>T , CM000673.2:g.6319394C>T GRCh38
NC_000011.9:g.6340624C>T , CM000673.1:g.6340624C>T GRCh37
NC_000011.8:g.6297200C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.555G>A MANE Select ENSP00000307292.3:p.Lys185=
ENST00000303927.3:c.555G>A ENSP00000307292.3:p.Lys185=
ENST00000524852.1:n.341G>A
ENST00000530979.1:c.651G>A ENSP00000432047.1:p.Lys217=
ENST00000532354.1:n.577G>A
NM_145040.2:c.555G>A NP_659477.2:p.Lys185=
XR_930997.1:n.720+1174C>T
XR_001748106.1:n.5C>T
XR_242848.4:n.254C>T
NM_145040.3:c.555G>A MANE Select NP_659477.2:p.Lys185=
Search 100 bp 5'
Search 100 bp 3'