Canonical Allele Identifier: CA472720334
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340432A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319202A>G , CM000673.2:g.6319202A>G GRCh38
NC_000011.9:g.6340432A>G , CM000673.1:g.6340432A>G GRCh37
NC_000011.8:g.6297008A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.747T>C MANE Select ENSP00000307292.3:p.Ala249=
ENST00000303927.3:c.747T>C ENSP00000307292.3:p.Ala249=
ENST00000524852.1:n.533T>C
ENST00000530979.1:c.843T>C ENSP00000432047.1:p.Ala281=
ENST00000532354.1:n.769T>C
NM_145040.2:c.747T>C NP_659477.2:p.Ala249=
XR_930997.1:n.720+982A>G
XR_242848.4:n.62A>G
NM_145040.3:c.747T>C MANE Select NP_659477.2:p.Ala249=
Search 100 bp 5'
Search 100 bp 3'