Canonical Allele Identifier: CA2665515383
Gene: KLHL18 HGNC NCBI
gnomAD v4:
chr3-47334618-G-A
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47334618G>A , CM000665.2:g.47334618G>A GRCh38
NC_000003.11:g.47376108G>A , CM000665.1:g.47376108G>A GRCh37
NC_000003.10:g.47351112G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000232766.6:c.762-65G>A MANE Select ENSP00000232766.5:n.762-65G>A
ENST00000232766.5:c.762-65G>A ENSP00000232766.5:n.762-65G>A
ENST00000442272.1:c.*451-65G>A ENSP00000392507.1:n.*451-65G>A
ENST00000461084.5:n.782-65G>A
NM_025010.4:c.762-65G>A NP_079286.2:n.762-65G>A
XM_005265001.3:c.762-65G>A XP_005265058.2:n.762-65G>A
XM_005265002.3:c.762-65G>A XP_005265059.2:n.762-65G>A
XM_005265003.3:c.762-65G>A XP_005265060.2:n.762-65G>A
XM_006713079.1:c.567-65G>A XP_006713142.1:n.567-65G>A
XM_005265002.5:c.762-65G>A XP_005265059.2:n.762-65G>A
XM_017006033.1:c.426-65G>A XP_016861522.1:n.426-65G>A
XM_017006034.1:c.426-65G>A XP_016861523.1:n.426-65G>A
XM_017006035.1:c.426-65G>A XP_016861524.1:n.426-65G>A
NM_025010.5:c.762-65G>A MANE Select NP_079286.2:n.762-65G>A
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