Canonical Allele Identifier: CA217265326
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs974628926
gnomAD v2: 11-6340180-G-A
gnomAD v3: 11-6318950-G-A
gnomAD v4: 11-6318950-G-A
MyVariant Identifiers: chr11:g.6340180G>A (hg19) chr11:g.6318950G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6318950G>A , CM000673.2:g.6318950G>A GRCh38
NC_000011.9:g.6340180G>A , CM000673.1:g.6340180G>A GRCh37
NC_000011.8:g.6296756G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*213C>T MANE Select ENSP00000307292.3:n.*213C>T
ENST00000303927.3:c.*213C>T ENSP00000307292.3:n.*213C>T
ENST00000532354.1:n.1021C>T
NM_145040.2:c.*213C>T NP_659477.2:n.*213C>T
XR_930997.1:n.720+730G>A
NM_145040.3:c.*213C>T MANE Select NP_659477.2:n.*213C>T
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