Canonical Allele Identifier: CA2612218806
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319052-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319052C>T , CM000673.2:g.6319052C>T GRCh38
NC_000011.9:g.6340282C>T , CM000673.1:g.6340282C>T GRCh37
NC_000011.8:g.6296858C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*111G>A MANE Select ENSP00000307292.3:n.*111G>A
ENST00000303927.3:c.*111G>A ENSP00000307292.3:n.*111G>A
ENST00000532354.1:n.919G>A
NM_145040.2:c.*111G>A NP_659477.2:n.*111G>A
XR_930997.1:n.720+832C>T
NM_145040.3:c.*111G>A MANE Select NP_659477.2:n.*111G>A
Search 100 bp 5'
Search 100 bp 3'