Canonical Allele Identifier: CA129303
Gene: KLHL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 30518
ClinVar RCV Id: RCV000023475 RCV000128519 RCV002513190
dbSNP Id: rs199469636
MyVariant Identifiers: chr5:g.136963994C>T (hg19) chr5:g.137628305C>T (hg38)
PubMed: PMID:22266938 PMID:22406640 PMID:24821705
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137628305C>T , CM000667.2:g.137628305C>T GRCh38
NC_000005.9:g.136963994C>T , CM000667.1:g.136963994C>T GRCh37
NC_000005.8:g.136991893C>T NCBI36
NG_032569.1:g.112786G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309755.9:c.1583G>A MANE Select ENSP00000312397.4:p.Arg528His
ENST00000309755.8:c.1583G>A ENSP00000312397.4:p.Arg528His
ENST00000447439.6:n.1639G>A
ENST00000504208.5:c.*467G>A ENSP00000423585.1:n.*467G>A
ENST00000506491.5:c.1337G>A ENSP00000424828.1:p.Arg446His
ENST00000506873.5:n.1106G>A
ENST00000508657.5:c.1487G>A ENSP00000422099.1:p.Arg496His
ENST00000509694.1:n.376G>A
NM_001257194.1:c.1487G>A NP_001244123.1:p.Arg496His
NM_001257195.1:c.1337G>A NP_001244124.1:p.Arg446His
NM_017415.2:c.1583G>A NP_059111.2:p.Arg528His
NM_017415.3:c.1583G>A MANE Select NP_059111.2:p.Arg528His
NM_001257195.2:c.1337G>A NP_001244124.1:p.Arg446His
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