Canonical Allele Identifier: CA129308
Gene: KLHL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 30522
ClinVar RCV Id: RCV000023479 RCV000128518
dbSNP Id: rs199469635
gnomAD v4: 5-137628306-G-A
MyVariant Identifiers: chr5:g.136963995G>A (hg19) chr5:g.137628306G>A (hg38)
PubMed: PMID:22266938 PMID:22406640
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137628306G>A , CM000667.2:g.137628306G>A GRCh38
NC_000005.9:g.136963995G>A , CM000667.1:g.136963995G>A GRCh37
NC_000005.8:g.136991894G>A NCBI36
NG_032569.1:g.112785C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000309755.9:c.1582C>T MANE Select ENSP00000312397.4:p.Arg528Cys
ENST00000309755.8:c.1582C>T ENSP00000312397.4:p.Arg528Cys
ENST00000447439.6:n.1638C>T
ENST00000504208.5:c.*466C>T ENSP00000423585.1:n.*466C>T
ENST00000506491.5:c.1336C>T ENSP00000424828.1:p.Arg446Cys
ENST00000506873.5:n.1105C>T
ENST00000508657.5:c.1486C>T ENSP00000422099.1:p.Arg496Cys
ENST00000509694.1:n.375C>T
NM_001257194.1:c.1486C>T NP_001244123.1:p.Arg496Cys
NM_001257195.1:c.1336C>T NP_001244124.1:p.Arg446Cys
NM_017415.2:c.1582C>T NP_059111.2:p.Arg528Cys
NM_017415.3:c.1582C>T MANE Select NP_059111.2:p.Arg528Cys
NM_001257195.2:c.1336C>T NP_001244124.1:p.Arg446Cys
Search 100 bp 5'
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