Canonical Allele Identifier: CA269982
Gene: KLHL3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 100541
ClinVar RCV Id: RCV000128513
dbSNP Id: rs199469627

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
NM_001257194.1:c.830A>G VV NP_001244123.1:p.Gln277Arg
NM_001257195.1:c.680A>G VV NP_001244124.1:p.Gln227Arg
NM_017415.2:c.926A>G VV NP_059111.2:p.Gln309Arg
NM_017415.3:c.926A>G VV MANE Preferred NP_059111.2:p.Gln309Arg
ENST00000309755.8:c.926A>G ENSP00000312397.4:p.Gln309Arg
ENST00000502381.1:n.513A>G
ENST00000504208.5:c.*335-11518A>G ENSP00000423585.1:p.=
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