Canonical Allele Identifier: CA269982

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100541
• ClinVar RCV Id: RCV000128513
• dbSNP Id: rs199469627
• MyVariant Identifiers: chr5:g.136975644T>C (hg19) ; chr5:g.137639955T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639955T>C , CM000667.2:g.137639955T>C	GRCh38
NC_000005.9:g.136975644T>C , CM000667.1:g.136975644T>C	GRCh37
NC_000005.8:g.137003543T>C	NCBI36
NG_032569.1:g.101136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.926A>G MANE Select	ENSP00000312397.4:p.Gln309Arg
ENST00000309755.8:c.926A>G	ENSP00000312397.4:p.Gln309Arg
ENST00000502381.1:n.513A>G
ENST00000504208.5:c.*335-11518A>G	ENSP00000423585.1:n.*335-11518A>G
ENST00000505853.1:c.806A>G	ENSP00000426173.1:p.Gln269Arg
ENST00000506491.5:c.680A>G	ENSP00000424828.1:p.Gln227Arg
ENST00000506873.5:n.551A>G
ENST00000508657.5:c.830A>G	ENSP00000422099.1:p.Gln277Arg
NM_001257194.1:c.830A>G	NP_001244123.1:p.Gln277Arg
NM_001257195.1:c.680A>G	NP_001244124.1:p.Gln227Arg
NM_017415.2:c.926A>G	NP_059111.2:p.Gln309Arg
NM_017415.3:c.926A>G MANE Select	NP_059111.2:p.Gln309Arg
NM_001257195.2:c.680A>G	NP_001244124.1:p.Gln227Arg