Canonical Allele Identifier: CA361045381

Gene: KLHL3

Linked Data

• COSMIC: COSM6101895
• MyVariant Identifiers: chr5:g.136963999G>T (hg19) ; chr5:g.137628310G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628310G>T , CM000667.2:g.137628310G>T	GRCh38
NC_000005.9:g.136963999G>T , CM000667.1:g.136963999G>T	GRCh37
NC_000005.8:g.136991898G>T	NCBI36
NG_032569.1:g.112781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1578C>A MANE Select	ENSP00000312397.4:p.Cys526Ter
ENST00000309755.8:c.1578C>A	ENSP00000312397.4:p.Cys526Ter
ENST00000447439.6:n.1634C>A
ENST00000504208.5:c.*462C>A	ENSP00000423585.1:n.*462C>A
ENST00000506491.5:c.1332C>A	ENSP00000424828.1:p.Cys444Ter
ENST00000506873.5:n.1101C>A
ENST00000508657.5:c.1482C>A	ENSP00000422099.1:p.Cys494Ter
ENST00000509694.1:n.371C>A
NM_001257194.1:c.1482C>A	NP_001244123.1:p.Cys494Ter
NM_001257195.1:c.1332C>A	NP_001244124.1:p.Cys444Ter
NM_017415.2:c.1578C>A	NP_059111.2:p.Cys526Ter
NM_017415.3:c.1578C>A MANE Select	NP_059111.2:p.Cys526Ter
NM_001257195.2:c.1332C>A	NP_001244124.1:p.Cys444Ter