Canonical Allele Identifier: CA679090757
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1279295817
gnomAD v3: 11-6319080-T-G
gnomAD v4: 11-6319080-T-G
MyVariant Identifiers: chr11:g.6340310T>G (hg19) chr11:g.6319080T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319080T>G , CM000673.2:g.6319080T>G GRCh38
NC_000011.9:g.6340310T>G , CM000673.1:g.6340310T>G GRCh37
NC_000011.8:g.6296886T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*83A>C MANE Select ENSP00000307292.3:n.*83A>C
ENST00000303927.3:c.*83A>C ENSP00000307292.3:n.*83A>C
ENST00000532354.1:n.891A>C
NM_145040.2:c.*83A>C NP_659477.2:n.*83A>C
XR_930997.1:n.720+860T>G
NM_145040.3:c.*83A>C MANE Select NP_659477.2:n.*83A>C
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