Canonical Allele Identifier: CA379352280
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340632A>C (hg19) chr11:g.6319402A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319402A>C , CM000673.2:g.6319402A>C GRCh38
NC_000011.9:g.6340632A>C , CM000673.1:g.6340632A>C GRCh37
NC_000011.8:g.6297208A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.547T>G MANE Select ENSP00000307292.3:p.Leu183Val
ENST00000303927.3:c.547T>G ENSP00000307292.3:p.Leu183Val
ENST00000524852.1:n.333T>G
ENST00000530979.1:c.643T>G ENSP00000432047.1:p.Leu215Val
ENST00000532354.1:n.569T>G
NM_145040.2:c.547T>G NP_659477.2:p.Leu183Val
XR_930997.1:n.720+1182A>C
XR_001748106.1:n.13A>C
XR_242848.4:n.262A>C
NM_145040.3:c.547T>G MANE Select NP_659477.2:p.Leu183Val
Search 100 bp 5'
Search 100 bp 3'