Canonical Allele Identifier: CA379351784
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340418A>C (hg19) chr11:g.6319188A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319188A>C , CM000673.2:g.6319188A>C GRCh38
NC_000011.9:g.6340418A>C , CM000673.1:g.6340418A>C GRCh37
NC_000011.8:g.6296994A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.761T>G MANE Select ENSP00000307292.3:p.Leu254Arg
ENST00000303927.3:c.761T>G ENSP00000307292.3:p.Leu254Arg
ENST00000524852.1:n.547T>G
ENST00000530979.1:c.857T>G ENSP00000432047.1:p.Leu286Arg
ENST00000532354.1:n.783T>G
NM_145040.2:c.761T>G NP_659477.2:p.Leu254Arg
XR_930997.1:n.720+968A>C
XR_242848.4:n.48A>C
NM_145040.3:c.761T>G MANE Select NP_659477.2:p.Leu254Arg
Search 100 bp 5'
Search 100 bp 3'