Canonical Allele Identifier: CA1950112432
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1846761281
gnomAD v4: 11-6319029-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319029T>G , CM000673.2:g.6319029T>G GRCh38
NC_000011.9:g.6340259T>G , CM000673.1:g.6340259T>G GRCh37
NC_000011.8:g.6296835T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*134A>C MANE Select ENSP00000307292.3:n.*134A>C
ENST00000303927.3:c.*134A>C ENSP00000307292.3:n.*134A>C
ENST00000532354.1:n.942A>C
NM_145040.2:c.*134A>C NP_659477.2:n.*134A>C
XR_930997.1:n.720+809T>G
NM_145040.3:c.*134A>C MANE Select NP_659477.2:n.*134A>C
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