Canonical Allele Identifier: CA361049014
Gene: KLHL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639964A>G , CM000667.2:g.137639964A>G GRCh38
NC_000005.9:g.136975653A>G , CM000667.1:g.136975653A>G GRCh37
NC_000005.8:g.137003552A>G NCBI36
NG_032569.1:g.101127T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309755.9:c.917T>C MANE Select ENSP00000312397.4:p.Val306Ala
ENST00000309755.8:c.917T>C ENSP00000312397.4:p.Val306Ala
ENST00000502381.1:n.504T>C
ENST00000504208.5:c.*335-11527T>C ENSP00000423585.1:n.*335-11527T>C
ENST00000505853.1:c.797T>C ENSP00000426173.1:p.Val266Ala
ENST00000506491.5:c.671T>C ENSP00000424828.1:p.Val224Ala
ENST00000506873.5:n.542T>C
ENST00000508657.5:c.821T>C ENSP00000422099.1:p.Val274Ala
NM_001257194.1:c.821T>C NP_001244123.1:p.Val274Ala
NM_001257195.1:c.671T>C NP_001244124.1:p.Val224Ala
NM_017415.2:c.917T>C NP_059111.2:p.Val306Ala
NM_017415.3:c.917T>C MANE Select NP_059111.2:p.Val306Ala
NM_001257195.2:c.671T>C NP_001244124.1:p.Val224Ala