Canonical Allele Identifier: CA129309

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 30523
• ClinVar RCV Id: RCV000023480 ; RCV000128523
• dbSNP Id: rs199469632
• MyVariant Identifiers: chr5:g.136973006C>T (hg19) ; chr5:g.137637317C>T (hg38)
• PubMed: PMID:22266938

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137637317C>T , CM000667.2:g.137637317C>T	GRCh38
NC_000005.9:g.136973006C>T , CM000667.1:g.136973006C>T	GRCh37
NC_000005.8:g.137000905C>T	NCBI36
NG_032569.1:g.103774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1298G>A MANE Select	ENSP00000312397.4:p.Ser433Asn
ENST00000309755.8:c.1298G>A	ENSP00000312397.4:p.Ser433Asn
ENST00000502381.1:n.806+1636G>A
ENST00000504208.5:c.*335-8880G>A	ENSP00000423585.1:n.*335-8880G>A
ENST00000505853.1:c.1178G>A	ENSP00000426173.1:p.Ser393Asn
ENST00000506491.5:c.1052G>A	ENSP00000424828.1:p.Ser351Asn
ENST00000506873.5:n.844+1636G>A
ENST00000508657.5:c.1202G>A	ENSP00000422099.1:p.Ser401Asn
NM_001257194.1:c.1202G>A	NP_001244123.1:p.Ser401Asn
NM_001257195.1:c.1052G>A	NP_001244124.1:p.Ser351Asn
NM_017415.2:c.1298G>A	NP_059111.2:p.Ser433Asn
NM_017415.3:c.1298G>A MANE Select	NP_059111.2:p.Ser433Asn
NM_001257195.2:c.1052G>A	NP_001244124.1:p.Ser351Asn