Canonical Allele Identifier: CA3422322
Gene: KLHL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2170548
ClinVar RCV Id: RCV003080591
dbSNP Id: rs151263923

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639867G>A , CM000667.2:g.137639867G>A GRCh38
NC_000005.9:g.136975556G>A , CM000667.1:g.136975556G>A GRCh37
NC_000005.8:g.137003455G>A NCBI36
NG_032569.1:g.101224C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1014C>T MANE Select ENSP00000312397.4:p.Cys338=
ENST00000309755.8:c.1014C>T ENSP00000312397.4:p.Cys338=
ENST00000502381.1:n.601C>T
ENST00000504208.5:c.*335-11430C>T ENSP00000423585.1:n.*335-11430C>T
ENST00000505853.1:c.894C>T ENSP00000426173.1:p.Cys298=
ENST00000506491.5:c.768C>T ENSP00000424828.1:p.Cys256=
ENST00000506873.5:n.639C>T
ENST00000508657.5:c.918C>T ENSP00000422099.1:p.Cys306=
NM_001257194.1:c.918C>T NP_001244123.1:p.Cys306=
NM_001257195.1:c.768C>T NP_001244124.1:p.Cys256=
NM_017415.2:c.1014C>T NP_059111.2:p.Cys338=
NM_017415.3:c.1014C>T MANE Select NP_059111.2:p.Cys338=
NM_001257195.2:c.768C>T NP_001244124.1:p.Cys256=