Canonical Allele Identifier: CA446556426

Gene: KLHL3

Linked Data

• dbSNP Id: rs2149878035
• MyVariant Identifiers: chr5:g.136964113A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628424A>G , CM000667.2:g.137628424A>G	GRCh38
NC_000005.9:g.136964113A>G , CM000667.1:g.136964113A>G	GRCh37
NC_000005.8:g.136992012A>G	NCBI36
NG_032569.1:g.112667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1464T>C MANE Select	ENSP00000312397.4:p.Leu488=
ENST00000309755.8:c.1464T>C	ENSP00000312397.4:p.Leu488=
ENST00000447439.6:n.1520T>C
ENST00000504208.5:c.*348T>C	ENSP00000423585.1:n.*348T>C
ENST00000506491.5:c.1218T>C	ENSP00000424828.1:p.Leu406=
ENST00000506873.5:n.987T>C
ENST00000508657.5:c.1368T>C	ENSP00000422099.1:p.Leu456=
ENST00000509694.1:n.257T>C
NM_001257194.1:c.1368T>C	NP_001244123.1:p.Leu456=
NM_001257195.1:c.1218T>C	NP_001244124.1:p.Leu406=
NM_017415.2:c.1464T>C	NP_059111.2:p.Leu488=
NM_017415.3:c.1464T>C MANE Select	NP_059111.2:p.Leu488=
NM_001257195.2:c.1218T>C	NP_001244124.1:p.Leu406=