Canonical Allele Identifier: CA129304
Gene: KLHL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 30519
dbSNP Id: rs199469638

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137661950G>A , CM000667.2:g.137661950G>A GRCh38
NC_000005.9:g.136997639G>A , CM000667.1:g.136997639G>A GRCh37
NC_000005.8:g.137025538G>A NCBI36
NG_032569.1:g.79141C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000309755.9:c.718C>T MANE Select ENSP00000312397.4:p.Arg240Ter
ENST00000309755.8:c.718C>T ENSP00000312397.4:p.Arg240Ter
ENST00000502381.1:n.305C>T
ENST00000504208.5:c.*149C>T ENSP00000423585.1:n.*149C>T
ENST00000504496.5:n.593C>T
ENST00000505853.1:c.598C>T ENSP00000426173.1:p.Arg200Ter
ENST00000506491.5:c.472C>T ENSP00000424828.1:p.Arg158Ter
ENST00000506873.5:n.343C>T
ENST00000508657.5:c.622C>T ENSP00000422099.1:p.Arg208Ter
NM_001257194.1:c.622C>T NP_001244123.1:p.Arg208Ter
NM_001257195.1:c.472C>T NP_001244124.1:p.Arg158Ter
NM_017415.2:c.718C>T NP_059111.2:p.Arg240Ter
NM_017415.3:c.718C>T MANE Select NP_059111.2:p.Arg240Ter
NM_001257195.2:c.472C>T NP_001244124.1:p.Arg158Ter