Canonical Allele Identifier: CA361048480

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974831A>T (hg19) ; chr5:g.137639142A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639142A>T , CM000667.2:g.137639142A>T	GRCh38
NC_000005.9:g.136974831A>T , CM000667.1:g.136974831A>T	GRCh37
NC_000005.8:g.137002730A>T	NCBI36
NG_032569.1:g.101949T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1030T>A MANE Select	ENSP00000312397.4:p.Phe344Ile
ENST00000309755.8:c.1030T>A	ENSP00000312397.4:p.Phe344Ile
ENST00000502381.1:n.617T>A
ENST00000504208.5:c.*335-10705T>A	ENSP00000423585.1:n.*335-10705T>A
ENST00000505853.1:c.910T>A	ENSP00000426173.1:p.Phe304Ile
ENST00000506491.5:c.784T>A	ENSP00000424828.1:p.Phe262Ile
ENST00000506873.5:n.655T>A
ENST00000508657.5:c.934T>A	ENSP00000422099.1:p.Phe312Ile
NM_001257194.1:c.934T>A	NP_001244123.1:p.Phe312Ile
NM_001257195.1:c.784T>A	NP_001244124.1:p.Phe262Ile
NM_017415.2:c.1030T>A	NP_059111.2:p.Phe344Ile
NM_017415.3:c.1030T>A MANE Select	NP_059111.2:p.Phe344Ile
NM_001257195.2:c.784T>A	NP_001244124.1:p.Phe262Ile