Canonical Allele Identifier: CA379352301
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319414-G-A
MyVariant Identifiers: chr11:g.6340644G>A (hg19) chr11:g.6319414G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319414G>A , CM000673.2:g.6319414G>A GRCh38
NC_000011.9:g.6340644G>A , CM000673.1:g.6340644G>A GRCh37
NC_000011.8:g.6297220G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.535C>T MANE Select ENSP00000307292.3:p.Arg179Trp
ENST00000303927.3:c.535C>T ENSP00000307292.3:p.Arg179Trp
ENST00000524852.1:n.321C>T
ENST00000530979.1:c.631C>T ENSP00000432047.1:p.Arg211Trp
ENST00000532354.1:n.557C>T
NM_145040.2:c.535C>T NP_659477.2:p.Arg179Trp
XR_930997.1:n.720+1194G>A
XR_001748106.1:n.25G>A
XR_242848.4:n.274G>A
NM_145040.3:c.535C>T MANE Select NP_659477.2:p.Arg179Trp
Search 100 bp 5'
Search 100 bp 3'