Canonical Allele Identifier: CA379352198
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319360-T-G
MyVariant Identifiers: chr11:g.6340590T>G (hg19) chr11:g.6319360T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319360T>G , CM000673.2:g.6319360T>G GRCh38
NC_000011.9:g.6340590T>G , CM000673.1:g.6340590T>G GRCh37
NC_000011.8:g.6297166T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.589A>C MANE Select ENSP00000307292.3:p.Lys197Gln
ENST00000303927.3:c.589A>C ENSP00000307292.3:p.Lys197Gln
ENST00000524852.1:n.375A>C
ENST00000530979.1:c.685A>C ENSP00000432047.1:p.Lys229Gln
ENST00000532354.1:n.611A>C
NM_145040.2:c.589A>C NP_659477.2:p.Lys197Gln
XR_930997.1:n.720+1140T>G
XR_242848.4:n.220T>G
NM_145040.3:c.589A>C MANE Select NP_659477.2:p.Lys197Gln
Search 100 bp 5'
Search 100 bp 3'