Canonical Allele Identifier: CA5852172
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs745611588
ExAC: 11:6340375 G / A
gnomAD v2: 11-6340375-G-A
gnomAD v4: 11-6319145-G-A
MyVariant Identifiers: chr11:g.6340375G>A (hg19) chr11:g.6319145G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319145G>A , CM000673.2:g.6319145G>A GRCh38
NC_000011.9:g.6340375G>A , CM000673.1:g.6340375G>A GRCh37
NC_000011.8:g.6296951G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*18C>T MANE Select ENSP00000307292.3:n.*18C>T
ENST00000303927.3:c.*18C>T ENSP00000307292.3:n.*18C>T
ENST00000524852.1:n.590C>T
ENST00000530979.1:c.*18C>T ENSP00000432047.1:n.*18C>T
ENST00000532354.1:n.826C>T
NM_145040.2:c.*18C>T NP_659477.2:n.*18C>T
XR_930997.1:n.720+925G>A
XR_242848.4:n.5G>A
NM_145040.3:c.*18C>T MANE Select NP_659477.2:n.*18C>T
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