Canonical Allele Identifier: CA129795
Gene: KLHL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31544
ClinVar RCV Id: RCV000024252
dbSNP Id: rs387907155

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137638979G>A , CM000667.2:g.137638979G>A GRCh38
NC_000005.9:g.136974668G>A , CM000667.1:g.136974668G>A GRCh37
NC_000005.8:g.137002567G>A NCBI36
NG_032569.1:g.102112C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1193C>T MANE Select ENSP00000312397.4:p.Ala398Val
ENST00000309755.8:c.1193C>T ENSP00000312397.4:p.Ala398Val
ENST00000502381.1:n.780C>T
ENST00000504208.5:c.*335-10542C>T ENSP00000423585.1:n.*335-10542C>T
ENST00000505853.1:c.1073C>T ENSP00000426173.1:p.Ala358Val
ENST00000506491.5:c.947C>T ENSP00000424828.1:p.Ala316Val
ENST00000506873.5:n.818C>T
ENST00000508657.5:c.1097C>T ENSP00000422099.1:p.Ala366Val
NM_001257194.1:c.1097C>T NP_001244123.1:p.Ala366Val
NM_001257195.1:c.947C>T NP_001244124.1:p.Ala316Val
NM_017415.2:c.1193C>T NP_059111.2:p.Ala398Val
NM_017415.3:c.1193C>T MANE Select NP_059111.2:p.Ala398Val
NM_001257195.2:c.947C>T NP_001244124.1:p.Ala316Val