Canonical Allele Identifier: CA361045747

Gene: KLHL3

Linked Data

• dbSNP Id: rs1750538541
• gnomAD v4: 5-137628420-C-T
• COSMIC: COSM3850310
• MyVariant Identifiers: chr5:g.136964109C>T (hg19) ; chr5:g.137628420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628420C>T , CM000667.2:g.137628420C>T	GRCh38
NC_000005.9:g.136964109C>T , CM000667.1:g.136964109C>T	GRCh37
NC_000005.8:g.136992008C>T	NCBI36
NG_032569.1:g.112671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1468G>A MANE Select	ENSP00000312397.4:p.Gly490Arg
ENST00000309755.8:c.1468G>A	ENSP00000312397.4:p.Gly490Arg
ENST00000447439.6:n.1524G>A
ENST00000504208.5:c.*352G>A	ENSP00000423585.1:n.*352G>A
ENST00000506491.5:c.1222G>A	ENSP00000424828.1:p.Gly408Arg
ENST00000506873.5:n.991G>A
ENST00000508657.5:c.1372G>A	ENSP00000422099.1:p.Gly458Arg
ENST00000509694.1:n.261G>A
NM_001257194.1:c.1372G>A	NP_001244123.1:p.Gly458Arg
NM_001257195.1:c.1222G>A	NP_001244124.1:p.Gly408Arg
NM_017415.2:c.1468G>A	NP_059111.2:p.Gly490Arg
NM_017415.3:c.1468G>A MANE Select	NP_059111.2:p.Gly490Arg
NM_001257195.2:c.1222G>A	NP_001244124.1:p.Gly408Arg