Canonical Allele Identifier: CA472908896
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319420-G-T
MyVariant Identifiers: chr11:g.6340650G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319420G>T , CM000673.2:g.6319420G>T GRCh38
NC_000011.9:g.6340650G>T , CM000673.1:g.6340650G>T GRCh37
NC_000011.8:g.6297226G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.529C>A MANE Select ENSP00000307292.3:p.Arg177=
ENST00000303927.3:c.529C>A ENSP00000307292.3:p.Arg177=
ENST00000524852.1:n.315C>A
ENST00000530979.1:c.625C>A ENSP00000432047.1:p.Arg209=
ENST00000532354.1:n.551C>A
NM_145040.2:c.529C>A NP_659477.2:p.Arg177=
XR_930997.1:n.720+1200G>T
XR_001748106.1:n.31G>T
XR_242848.4:n.280G>T
NM_145040.3:c.529C>A MANE Select NP_659477.2:p.Arg177=
Search 100 bp 5'
Search 100 bp 3'