Canonical Allele Identifier: CA279652

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 217888
• ClinVar RCV Id: RCV000201955
• dbSNP Id: rs863225302
• gnomAD v4: 5-137628369-C-T
• COSMIC: COSM1212633
• MyVariant Identifiers: chr5:g.136964058C>T (hg19) ; chr5:g.137628369C>T (hg38)
• PubMed: PMID:22266938 ; PMID:22406640

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628369C>T , CM000667.2:g.137628369C>T	GRCh38
NC_000005.9:g.136964058C>T , CM000667.1:g.136964058C>T	GRCh37
NC_000005.8:g.136991957C>T	NCBI36
NG_032569.1:g.112722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1519G>A MANE Select	ENSP00000312397.4:p.Val507Ile
ENST00000309755.8:c.1519G>A	ENSP00000312397.4:p.Val507Ile
ENST00000447439.6:n.1575G>A
ENST00000504208.5:c.*403G>A	ENSP00000423585.1:n.*403G>A
ENST00000506491.5:c.1273G>A	ENSP00000424828.1:p.Val425Ile
ENST00000506873.5:n.1042G>A
ENST00000508657.5:c.1423G>A	ENSP00000422099.1:p.Val475Ile
ENST00000509694.1:n.312G>A
NM_001257194.1:c.1423G>A	NP_001244123.1:p.Val475Ile
NM_001257195.1:c.1273G>A	NP_001244124.1:p.Val425Ile
NM_017415.2:c.1519G>A	NP_059111.2:p.Val507Ile
NM_017415.3:c.1519G>A MANE Select	NP_059111.2:p.Val507Ile
NM_001257195.2:c.1273G>A	NP_001244124.1:p.Val425Ile