Canonical Allele Identifier: CA361045729

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964102A>C (hg19) ; chr5:g.137628413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628413A>C , CM000667.2:g.137628413A>C	GRCh38
NC_000005.9:g.136964102A>C , CM000667.1:g.136964102A>C	GRCh37
NC_000005.8:g.136992001A>C	NCBI36
NG_032569.1:g.112678T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1475T>G MANE Select	ENSP00000312397.4:p.Leu492Arg
ENST00000309755.8:c.1475T>G	ENSP00000312397.4:p.Leu492Arg
ENST00000447439.6:n.1531T>G
ENST00000504208.5:c.*359T>G	ENSP00000423585.1:n.*359T>G
ENST00000506491.5:c.1229T>G	ENSP00000424828.1:p.Leu410Arg
ENST00000506873.5:n.998T>G
ENST00000508657.5:c.1379T>G	ENSP00000422099.1:p.Leu460Arg
ENST00000509694.1:n.268T>G
NM_001257194.1:c.1379T>G	NP_001244123.1:p.Leu460Arg
NM_001257195.1:c.1229T>G	NP_001244124.1:p.Leu410Arg
NM_017415.2:c.1475T>G	NP_059111.2:p.Leu492Arg
NM_017415.3:c.1475T>G MANE Select	NP_059111.2:p.Leu492Arg
NM_001257195.2:c.1229T>G	NP_001244124.1:p.Leu410Arg