Canonical Allele Identifier: CA361045664

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964072A>C (hg19) ; chr5:g.137628383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628383A>C , CM000667.2:g.137628383A>C	GRCh38
NC_000005.9:g.136964072A>C , CM000667.1:g.136964072A>C	GRCh37
NC_000005.8:g.136991971A>C	NCBI36
NG_032569.1:g.112708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1505T>G MANE Select	ENSP00000312397.4:p.Leu502Trp
ENST00000309755.8:c.1505T>G	ENSP00000312397.4:p.Leu502Trp
ENST00000447439.6:n.1561T>G
ENST00000504208.5:c.*389T>G	ENSP00000423585.1:n.*389T>G
ENST00000506491.5:c.1259T>G	ENSP00000424828.1:p.Leu420Trp
ENST00000506873.5:n.1028T>G
ENST00000508657.5:c.1409T>G	ENSP00000422099.1:p.Leu470Trp
ENST00000509694.1:n.298T>G
NM_001257194.1:c.1409T>G	NP_001244123.1:p.Leu470Trp
NM_001257195.1:c.1259T>G	NP_001244124.1:p.Leu420Trp
NM_017415.2:c.1505T>G	NP_059111.2:p.Leu502Trp
NM_017415.3:c.1505T>G MANE Select	NP_059111.2:p.Leu502Trp
NM_001257195.2:c.1259T>G	NP_001244124.1:p.Leu420Trp