Canonical Allele Identifier: CA361045764

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964115G>T (hg19) ; chr5:g.137628426G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628426G>T , CM000667.2:g.137628426G>T	GRCh38
NC_000005.9:g.136964115G>T , CM000667.1:g.136964115G>T	GRCh37
NC_000005.8:g.136992014G>T	NCBI36
NG_032569.1:g.112665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1462C>A MANE Select	ENSP00000312397.4:p.Leu488Ile
ENST00000309755.8:c.1462C>A	ENSP00000312397.4:p.Leu488Ile
ENST00000447439.6:n.1518C>A
ENST00000504208.5:c.*346C>A	ENSP00000423585.1:n.*346C>A
ENST00000506491.5:c.1216C>A	ENSP00000424828.1:p.Leu406Ile
ENST00000506873.5:n.985C>A
ENST00000508657.5:c.1366C>A	ENSP00000422099.1:p.Leu456Ile
ENST00000509694.1:n.255C>A
NM_001257194.1:c.1366C>A	NP_001244123.1:p.Leu456Ile
NM_001257195.1:c.1216C>A	NP_001244124.1:p.Leu406Ile
NM_017415.2:c.1462C>A	NP_059111.2:p.Leu488Ile
NM_017415.3:c.1462C>A MANE Select	NP_059111.2:p.Leu488Ile
NM_001257195.2:c.1216C>A	NP_001244124.1:p.Leu406Ile