Canonical Allele Identifier: CA361045702

Gene: KLHL3

Linked Data

• dbSNP Id: rs1580715566
• MyVariant Identifiers: chr5:g.136964087C>T (hg19) ; chr5:g.137628398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628398C>T , CM000667.2:g.137628398C>T	GRCh38
NC_000005.9:g.136964087C>T , CM000667.1:g.136964087C>T	GRCh37
NC_000005.8:g.136991986C>T	NCBI36
NG_032569.1:g.112693G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1490G>A MANE Select	ENSP00000312397.4:p.Gly497Glu
ENST00000309755.8:c.1490G>A	ENSP00000312397.4:p.Gly497Glu
ENST00000447439.6:n.1546G>A
ENST00000504208.5:c.*374G>A	ENSP00000423585.1:n.*374G>A
ENST00000506491.5:c.1244G>A	ENSP00000424828.1:p.Gly415Glu
ENST00000506873.5:n.1013G>A
ENST00000508657.5:c.1394G>A	ENSP00000422099.1:p.Gly465Glu
ENST00000509694.1:n.283G>A
NM_001257194.1:c.1394G>A	NP_001244123.1:p.Gly465Glu
NM_001257195.1:c.1244G>A	NP_001244124.1:p.Gly415Glu
NM_017415.2:c.1490G>A	NP_059111.2:p.Gly497Glu
NM_017415.3:c.1490G>A MANE Select	NP_059111.2:p.Gly497Glu
NM_001257195.2:c.1244G>A	NP_001244124.1:p.Gly415Glu