Canonical Allele Identifier: CA129308

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 30522
• ClinVar RCV Id: RCV000023479 ; RCV000128518
• dbSNP Id: rs199469635
• gnomAD v4: 5-137628306-G-A
• MyVariant Identifiers: chr5:g.136963995G>A (hg19) ; chr5:g.137628306G>A (hg38)
• PubMed: PMID:22266938 ; PMID:22406640

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
ENST00000309755.9:c.1582C>T MANE Select	ENSP00000312397.4:p.Arg528Cys
ENST00000309755.8:c.1582C>T	ENSP00000312397.4:p.Arg528Cys
ENST00000447439.6:n.1638C>T
ENST00000504208.5:c.*466C>T	ENSP00000423585.1:n.*466C>T
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
NM_001257194.1:c.1486C>T	NP_001244123.1:p.Arg496Cys
NM_001257195.1:c.1336C>T	NP_001244124.1:p.Arg446Cys
NM_017415.2:c.1582C>T	NP_059111.2:p.Arg528Cys
NM_017415.3:c.1582C>T MANE Select	NP_059111.2:p.Arg528Cys
NM_001257195.2:c.1336C>T	NP_001244124.1:p.Arg446Cys