Canonical Allele Identifier: CA446561489
Gene: KLHL3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.136975562T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639873T>C , CM000667.2:g.137639873T>C GRCh38
NC_000005.9:g.136975562T>C , CM000667.1:g.136975562T>C GRCh37
NC_000005.8:g.137003461T>C NCBI36
NG_032569.1:g.101218A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1008A>G MANE Select ENSP00000312397.4:p.Arg336=
ENST00000309755.8:c.1008A>G ENSP00000312397.4:p.Arg336=
ENST00000502381.1:n.595A>G
ENST00000504208.5:c.*335-11436A>G ENSP00000423585.1:n.*335-11436A>G
ENST00000505853.1:c.888A>G ENSP00000426173.1:p.Arg296=
ENST00000506491.5:c.762A>G ENSP00000424828.1:p.Arg254=
ENST00000506873.5:n.633A>G
ENST00000508657.5:c.912A>G ENSP00000422099.1:p.Arg304=
NM_001257194.1:c.912A>G NP_001244123.1:p.Arg304=
NM_001257195.1:c.762A>G NP_001244124.1:p.Arg254=
NM_017415.2:c.1008A>G NP_059111.2:p.Arg336=
NM_017415.3:c.1008A>G MANE Select NP_059111.2:p.Arg336=
NM_001257195.2:c.762A>G NP_001244124.1:p.Arg254=