Canonical Allele Identifier: CA5852235
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs751400273
ExAC: 11:6340614 G / A
gnomAD v2: 11-6340614-G-A
gnomAD v4: 11-6319384-G-A
MyVariant Identifiers: chr11:g.6340614G>A (hg19) chr11:g.6319384G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319384G>A , CM000673.2:g.6319384G>A GRCh38
NC_000011.9:g.6340614G>A , CM000673.1:g.6340614G>A GRCh37
NC_000011.8:g.6297190G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.565C>T MANE Select ENSP00000307292.3:p.Leu189Phe
ENST00000303927.3:c.565C>T ENSP00000307292.3:p.Leu189Phe
ENST00000524852.1:n.351C>T
ENST00000530979.1:c.661C>T ENSP00000432047.1:p.Leu221Phe
ENST00000532354.1:n.587C>T
NM_145040.2:c.565C>T NP_659477.2:p.Leu189Phe
XR_930997.1:n.720+1164G>A
XR_242848.4:n.244G>A
NM_145040.3:c.565C>T MANE Select NP_659477.2:p.Leu189Phe
Search 100 bp 5'
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