Canonical Allele Identifier: CA2612218732
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6318994-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6318994G>T , CM000673.2:g.6318994G>T GRCh38
NC_000011.9:g.6340224G>T , CM000673.1:g.6340224G>T GRCh37
NC_000011.8:g.6296800G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*169C>A MANE Select ENSP00000307292.3:n.*169C>A
ENST00000303927.3:c.*169C>A ENSP00000307292.3:n.*169C>A
ENST00000532354.1:n.977C>A
NM_145040.2:c.*169C>A NP_659477.2:n.*169C>A
XR_930997.1:n.720+774G>T
NM_145040.3:c.*169C>A MANE Select NP_659477.2:n.*169C>A
Search 100 bp 5'
Search 100 bp 3'