Canonical Allele Identifier: CA379352286
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319405-C-T
MyVariant Identifiers: chr11:g.6340635C>T (hg19) chr11:g.6319405C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319405C>T , CM000673.2:g.6319405C>T GRCh38
NC_000011.9:g.6340635C>T , CM000673.1:g.6340635C>T GRCh37
NC_000011.8:g.6297211C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.544G>A MANE Select ENSP00000307292.3:p.Gly182Arg
ENST00000303927.3:c.544G>A ENSP00000307292.3:p.Gly182Arg
ENST00000524852.1:n.330G>A
ENST00000530979.1:c.640G>A ENSP00000432047.1:p.Gly214Arg
ENST00000532354.1:n.566G>A
NM_145040.2:c.544G>A NP_659477.2:p.Gly182Arg
XR_930997.1:n.720+1185C>T
XR_001748106.1:n.16C>T
XR_242848.4:n.265C>T
NM_145040.3:c.544G>A MANE Select NP_659477.2:p.Gly182Arg
Search 100 bp 5'
Search 100 bp 3'