Canonical Allele Identifier: CA472720350
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319223-T-C
MyVariant Identifiers: chr11:g.6340453T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319223T>C , CM000673.2:g.6319223T>C GRCh38
NC_000011.9:g.6340453T>C , CM000673.1:g.6340453T>C GRCh37
NC_000011.8:g.6297029T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.726A>G MANE Select ENSP00000307292.3:p.Glu242=
ENST00000303927.3:c.726A>G ENSP00000307292.3:p.Glu242=
ENST00000524852.1:n.512A>G
ENST00000530979.1:c.822A>G ENSP00000432047.1:p.Glu274=
ENST00000532354.1:n.748A>G
NM_145040.2:c.726A>G NP_659477.2:p.Glu242=
XR_930997.1:n.720+1003T>C
XR_242848.4:n.83T>C
NM_145040.3:c.726A>G MANE Select NP_659477.2:p.Glu242=
Search 100 bp 5'
Search 100 bp 3'