Canonical Allele Identifier: CA269979

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100539
• ClinVar RCV Id: RCV000128511
• dbSNP Id: rs199469634
• MyVariant Identifiers: chr5:g.136964076G>T (hg19) ; chr5:g.137628387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628387G>T , CM000667.2:g.137628387G>T	GRCh38
NC_000005.9:g.136964076G>T , CM000667.1:g.136964076G>T	GRCh37
NC_000005.8:g.136991975G>T	NCBI36
NG_032569.1:g.112704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1501C>A MANE Select	ENSP00000312397.4:p.Pro501Thr
ENST00000309755.8:c.1501C>A	ENSP00000312397.4:p.Pro501Thr
ENST00000447439.6:n.1557C>A
ENST00000504208.5:c.*385C>A	ENSP00000423585.1:n.*385C>A
ENST00000506491.5:c.1255C>A	ENSP00000424828.1:p.Pro419Thr
ENST00000506873.5:n.1024C>A
ENST00000508657.5:c.1405C>A	ENSP00000422099.1:p.Pro469Thr
ENST00000509694.1:n.294C>A
NM_001257194.1:c.1405C>A	NP_001244123.1:p.Pro469Thr
NM_001257195.1:c.1255C>A	NP_001244124.1:p.Pro419Thr
NM_017415.2:c.1501C>A	NP_059111.2:p.Pro501Thr
NM_017415.3:c.1501C>A MANE Select	NP_059111.2:p.Pro501Thr
NM_001257195.2:c.1255C>A	NP_001244124.1:p.Pro419Thr