Canonical Allele Identifier: CA361048312

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974792C>A (hg19) ; chr5:g.137639103C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639103C>A , CM000667.2:g.137639103C>A	GRCh38
NC_000005.9:g.136974792C>A , CM000667.1:g.136974792C>A	GRCh37
NC_000005.8:g.137002691C>A	NCBI36
NG_032569.1:g.101988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1069G>T MANE Select	ENSP00000312397.4:p.Gly357Cys
ENST00000309755.8:c.1069G>T	ENSP00000312397.4:p.Gly357Cys
ENST00000502381.1:n.656G>T
ENST00000504208.5:c.*335-10666G>T	ENSP00000423585.1:n.*335-10666G>T
ENST00000505853.1:c.949G>T	ENSP00000426173.1:p.Gly317Cys
ENST00000506491.5:c.823G>T	ENSP00000424828.1:p.Gly275Cys
ENST00000506873.5:n.694G>T
ENST00000508657.5:c.973G>T	ENSP00000422099.1:p.Gly325Cys
NM_001257194.1:c.973G>T	NP_001244123.1:p.Gly325Cys
NM_001257195.1:c.823G>T	NP_001244124.1:p.Gly275Cys
NM_017415.2:c.1069G>T	NP_059111.2:p.Gly357Cys
NM_017415.3:c.1069G>T MANE Select	NP_059111.2:p.Gly357Cys
NM_001257195.2:c.823G>T	NP_001244124.1:p.Gly275Cys