Canonical Allele Identifier: CA379352339
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1436087202
gnomAD v2: 11-6340663-C-G
gnomAD v4: 11-6319433-C-G
MyVariant Identifiers: chr11:g.6340663C>G (hg19) chr11:g.6319433C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319433C>G , CM000673.2:g.6319433C>G GRCh38
NC_000011.9:g.6340663C>G , CM000673.1:g.6340663C>G GRCh37
NC_000011.8:g.6297239C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.516G>C MANE Select ENSP00000307292.3:p.Glu172Asp
ENST00000303927.3:c.516G>C ENSP00000307292.3:p.Glu172Asp
ENST00000524852.1:n.302G>C
ENST00000530979.1:c.612G>C ENSP00000432047.1:p.Glu204Asp
ENST00000532354.1:n.538G>C
NM_145040.2:c.516G>C NP_659477.2:p.Glu172Asp
XR_930997.1:n.720+1213C>G
XR_001748106.1:n.44C>G
XR_242848.4:n.293C>G
NM_145040.3:c.516G>C MANE Select NP_659477.2:p.Glu172Asp
Search 100 bp 5'
Search 100 bp 3'