Canonical Allele Identifier: CA3422176
Gene: KLHL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2394088
ClinVar RCV Id: RCV002699720
dbSNP Id: rs370212337

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137628317T>G , CM000667.2:g.137628317T>G GRCh38
NC_000005.9:g.136964006T>G , CM000667.1:g.136964006T>G GRCh37
NC_000005.8:g.136991905T>G NCBI36
NG_032569.1:g.112774A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1571A>C MANE Select ENSP00000312397.4:p.Asn524Thr
ENST00000309755.8:c.1571A>C ENSP00000312397.4:p.Asn524Thr
ENST00000447439.6:n.1627A>C
ENST00000504208.5:c.*455A>C ENSP00000423585.1:n.*455A>C
ENST00000506491.5:c.1325A>C ENSP00000424828.1:p.Asn442Thr
ENST00000506873.5:n.1094A>C
ENST00000508657.5:c.1475A>C ENSP00000422099.1:p.Asn492Thr
ENST00000509694.1:n.364A>C
NM_001257194.1:c.1475A>C NP_001244123.1:p.Asn492Thr
NM_001257195.1:c.1325A>C NP_001244124.1:p.Asn442Thr
NM_017415.2:c.1571A>C NP_059111.2:p.Asn524Thr
NM_017415.3:c.1571A>C MANE Select NP_059111.2:p.Asn524Thr
NM_001257195.2:c.1325A>C NP_001244124.1:p.Asn442Thr