Canonical Allele Identifier: CA5852167
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs11544765
ExAC: 11:6340359 G / C
gnomAD v2: 11-6340359-G-C
gnomAD v3: 11-6319129-G-C
gnomAD v4: 11-6319129-G-C
MyVariant Identifiers: chr11:g.6340359G>C (hg19) chr11:g.6319129G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319129G>C , CM000673.2:g.6319129G>C GRCh38
NC_000011.9:g.6340359G>C , CM000673.1:g.6340359G>C GRCh37
NC_000011.8:g.6296935G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*34C>G MANE Select ENSP00000307292.3:n.*34C>G
ENST00000303927.3:c.*34C>G ENSP00000307292.3:n.*34C>G
ENST00000532354.1:n.842C>G
NM_145040.2:c.*34C>G NP_659477.2:n.*34C>G
XR_930997.1:n.720+909G>C
NM_145040.3:c.*34C>G MANE Select NP_659477.2:n.*34C>G
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