Canonical Allele Identifier: CA129308
Gene: KLHL3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30522
dbSNP Id: rs199469635

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137628306G>A , CM000667.2:g.137628306G>A GRCh38
NC_000005.9:g.136963995G>A , CM000667.1:g.136963995G>A GRCh37
NC_000005.8:g.136991894G>A NCBI36
NG_032569.1:g.112785C>T

Transcript Alleles

HGVS Amino-acid change
NM_001257194.1:c.1486C>T VV NP_001244123.1:p.Arg496Cys
NM_001257195.1:c.1336C>T VV NP_001244124.1:p.Arg446Cys
NM_017415.2:c.1582C>T VV NP_059111.2:p.Arg528Cys
NM_017415.3:c.1582C>T VV MANE Preferred NP_059111.2:p.Arg528Cys
ENST00000309755.8:c.1582C>T ENSP00000312397.4:p.Arg528Cys
ENST00000447439.6:n.1638C>T
ENST00000504208.5:c.*466C>T ENSP00000423585.1:p.=
ENST00000506491.5:c.1336C>T ENSP00000424828.1:p.Arg446Cys
ENST00000506873.5:n.1105C>T
ENST00000508657.5:c.1486C>T ENSP00000422099.1:p.Arg496Cys
ENST00000509694.1:n.375C>T