Canonical Allele Identifier: CA2612218747
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319002-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319002C>A , CM000673.2:g.6319002C>A GRCh38
NC_000011.9:g.6340232C>A , CM000673.1:g.6340232C>A GRCh37
NC_000011.8:g.6296808C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*161G>T MANE Select ENSP00000307292.3:n.*161G>T
ENST00000303927.3:c.*161G>T ENSP00000307292.3:n.*161G>T
ENST00000532354.1:n.969G>T
NM_145040.2:c.*161G>T NP_659477.2:n.*161G>T
XR_930997.1:n.720+782C>A
NM_145040.3:c.*161G>T MANE Select NP_659477.2:n.*161G>T
Search 100 bp 5'
Search 100 bp 3'