Canonical Allele Identifier: CA361045388

Gene: KLHL3

Linked Data

• dbSNP Id: rs1580715443
• MyVariant Identifiers: chr5:g.136964001A>C (hg19) ; chr5:g.137628312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628312A>C , CM000667.2:g.137628312A>C	GRCh38
NC_000005.9:g.136964001A>C , CM000667.1:g.136964001A>C	GRCh37
NC_000005.8:g.136991900A>C	NCBI36
NG_032569.1:g.112779T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1576T>G MANE Select	ENSP00000312397.4:p.Cys526Gly
ENST00000309755.8:c.1576T>G	ENSP00000312397.4:p.Cys526Gly
ENST00000447439.6:n.1632T>G
ENST00000504208.5:c.*460T>G	ENSP00000423585.1:n.*460T>G
ENST00000506491.5:c.1330T>G	ENSP00000424828.1:p.Cys444Gly
ENST00000506873.5:n.1099T>G
ENST00000508657.5:c.1480T>G	ENSP00000422099.1:p.Cys494Gly
ENST00000509694.1:n.369T>G
NM_001257194.1:c.1480T>G	NP_001244123.1:p.Cys494Gly
NM_001257195.1:c.1330T>G	NP_001244124.1:p.Cys444Gly
NM_017415.2:c.1576T>G	NP_059111.2:p.Cys526Gly
NM_017415.3:c.1576T>G MANE Select	NP_059111.2:p.Cys526Gly
NM_001257195.2:c.1330T>G	NP_001244124.1:p.Cys444Gly