Canonical Allele Identifier: CA379352263
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340625T>G (hg19) chr11:g.6319395T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319395T>G , CM000673.2:g.6319395T>G GRCh38
NC_000011.9:g.6340625T>G , CM000673.1:g.6340625T>G GRCh37
NC_000011.8:g.6297201T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.554A>C MANE Select ENSP00000307292.3:p.Lys185Thr
ENST00000303927.3:c.554A>C ENSP00000307292.3:p.Lys185Thr
ENST00000524852.1:n.340A>C
ENST00000530979.1:c.650A>C ENSP00000432047.1:p.Lys217Thr
ENST00000532354.1:n.576A>C
NM_145040.2:c.554A>C NP_659477.2:p.Lys185Thr
XR_930997.1:n.720+1175T>G
XR_001748106.1:n.6T>G
XR_242848.4:n.255T>G
NM_145040.3:c.554A>C MANE Select NP_659477.2:p.Lys185Thr
Search 100 bp 5'
Search 100 bp 3'