Canonical Allele Identifier: CA129303

Gene: KLHL3

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

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