Canonical Allele Identifier: CA2612218871
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319131-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319131A>T , CM000673.2:g.6319131A>T GRCh38
NC_000011.9:g.6340361A>T , CM000673.1:g.6340361A>T GRCh37
NC_000011.8:g.6296937A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*32T>A MANE Select ENSP00000307292.3:n.*32T>A
ENST00000303927.3:c.*32T>A ENSP00000307292.3:n.*32T>A
ENST00000524852.1:n.604T>A
ENST00000532354.1:n.840T>A
NM_145040.2:c.*32T>A NP_659477.2:n.*32T>A
XR_930997.1:n.720+911A>T
NM_145040.3:c.*32T>A MANE Select NP_659477.2:n.*32T>A