Canonical Allele Identifier: CA269984

Gene: KLHL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137637323C>T , CM000667.2:g.137637323C>T	GRCh38
NC_000005.9:g.136973012C>T , CM000667.1:g.136973012C>T	GRCh37
NC_000005.8:g.137000911C>T	NCBI36
NG_032569.1:g.103768G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017415.3:c.1292G>A MANE Select	NP_059111.2:p.Arg431Gln
ENST00000309755.9:c.1292G>A MANE Select	ENSP00000312397.4:p.Arg431Gln
NM_001257194.1:c.1196G>A	NP_001244123.1:p.Arg399Gln
NM_001257195.1:c.1046G>A	NP_001244124.1:p.Arg349Gln
NM_001257195.2:c.1046G>A	NP_001244124.1:p.Arg349Gln
NM_017415.2:c.1292G>A	NP_059111.2:p.Arg431Gln
ENST00000309755.8:c.1292G>A	ENSP00000312397.4:p.Arg431Gln
ENST00000502381.1:n.806+1630G>A
ENST00000504208.5:c.*335-8886G>A	ENSP00000423585.1:n.*335-8886G>A
ENST00000505853.1:c.1172G>A	ENSP00000426173.1:p.Arg391Gln
ENST00000506491.5:c.1046G>A	ENSP00000424828.1:p.Arg349Gln
ENST00000506873.5:n.844+1630G>A
ENST00000508657.5:c.1196G>A	ENSP00000422099.1:p.Arg399Gln