Canonical Allele Identifier: CA2612218873
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319133-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319133A>C , CM000673.2:g.6319133A>C GRCh38
NC_000011.9:g.6340363A>C , CM000673.1:g.6340363A>C GRCh37
NC_000011.8:g.6296939A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*30T>G MANE Select ENSP00000307292.3:n.*30T>G
ENST00000303927.3:c.*30T>G ENSP00000307292.3:n.*30T>G
ENST00000524852.1:n.602T>G
ENST00000532354.1:n.838T>G
NM_145040.2:c.*30T>G NP_659477.2:n.*30T>G
XR_930997.1:n.720+913A>C
NM_145040.3:c.*30T>G MANE Select NP_659477.2:n.*30T>G
Search 100 bp 5'
Search 100 bp 3'