Canonical Allele Identifier: CA129301

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 30516
• ClinVar RCV Id: RCV000023473 ; RCV000128507
• dbSNP Id: rs199469639
• MyVariant Identifiers: chr5:g.136975605A>C (hg19) ; chr5:g.137639916A>C (hg38)
• PubMed: PMID:22266938

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639916A>C , CM000667.2:g.137639916A>C	GRCh38
NC_000005.9:g.136975605A>C , CM000667.1:g.136975605A>C	GRCh37
NC_000005.8:g.137003504A>C	NCBI36
NG_032569.1:g.101175T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.965T>G MANE Select	ENSP00000312397.4:p.Phe322Cys
ENST00000309755.8:c.965T>G	ENSP00000312397.4:p.Phe322Cys
ENST00000502381.1:n.552T>G
ENST00000504208.5:c.*335-11479T>G	ENSP00000423585.1:n.*335-11479T>G
ENST00000505853.1:c.845T>G	ENSP00000426173.1:p.Phe282Cys
ENST00000506491.5:c.719T>G	ENSP00000424828.1:p.Phe240Cys
ENST00000506873.5:n.590T>G
ENST00000508657.5:c.869T>G	ENSP00000422099.1:p.Phe290Cys
NM_001257194.1:c.869T>G	NP_001244123.1:p.Phe290Cys
NM_001257195.1:c.719T>G	NP_001244124.1:p.Phe240Cys
NM_017415.2:c.965T>G	NP_059111.2:p.Phe322Cys
NM_017415.3:c.965T>G MANE Select	NP_059111.2:p.Phe322Cys
NM_001257195.2:c.719T>G	NP_001244124.1:p.Phe240Cys