Canonical Allele Identifier: CA2612218819
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319062-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319062G>T , CM000673.2:g.6319062G>T GRCh38
NC_000011.9:g.6340292G>T , CM000673.1:g.6340292G>T GRCh37
NC_000011.8:g.6296868G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*101C>A MANE Select ENSP00000307292.3:n.*101C>A
ENST00000303927.3:c.*101C>A ENSP00000307292.3:n.*101C>A
ENST00000532354.1:n.909C>A
NM_145040.2:c.*101C>A NP_659477.2:n.*101C>A
XR_930997.1:n.720+842G>T
NM_145040.3:c.*101C>A MANE Select NP_659477.2:n.*101C>A
Search 100 bp 5'
Search 100 bp 3'