Canonical Allele Identifier: CA2612218767
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319017-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319017C>A , CM000673.2:g.6319017C>A GRCh38
NC_000011.9:g.6340247C>A , CM000673.1:g.6340247C>A GRCh37
NC_000011.8:g.6296823C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*146G>T MANE Select ENSP00000307292.3:n.*146G>T
ENST00000303927.3:c.*146G>T ENSP00000307292.3:n.*146G>T
ENST00000532354.1:n.954G>T
NM_145040.2:c.*146G>T NP_659477.2:n.*146G>T
XR_930997.1:n.720+797C>A
NM_145040.3:c.*146G>T MANE Select NP_659477.2:n.*146G>T
Search 100 bp 5'
Search 100 bp 3'