Canonical Allele Identifier: CA1950112509
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1846765307
gnomAD v4: 11-6319161-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319161C>T , CM000673.2:g.6319161C>T GRCh38
NC_000011.9:g.6340391C>T , CM000673.1:g.6340391C>T GRCh37
NC_000011.8:g.6296967C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*2G>A MANE Select ENSP00000307292.3:n.*2G>A
ENST00000303927.3:c.*2G>A ENSP00000307292.3:n.*2G>A
ENST00000524852.1:n.574G>A
ENST00000530979.1:c.*2G>A ENSP00000432047.1:n.*2G>A
ENST00000532354.1:n.810G>A
NM_145040.2:c.*2G>A NP_659477.2:n.*2G>A
XR_930997.1:n.720+941C>T
XR_242848.4:n.21C>T
NM_145040.3:c.*2G>A MANE Select NP_659477.2:n.*2G>A
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