Canonical Allele Identifier: CA269977
Gene: KLHL3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.137637335A>G
GRCh37 chr5:g.136973024A>G
Revel Score:
ENST00000506491 0.967
ENST00000508657 0.967
ENST00000309755 (MANE Select) 0.967
ENST00000505853 0.967
ClinVar RCV:
RCV000128509
ClinVar Variation:
100537
dbSNP:
199469642
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137637335A>G , CM000667.2:g.137637335A>G GRCh38
NC_000005.9:g.136973024A>G , CM000667.1:g.136973024A>G GRCh37
NC_000005.8:g.137000923A>G NCBI36
NG_032569.1:g.103756T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1280T>C MANE Select ENSP00000312397.4:p.Met427Thr
ENST00000309755.8:c.1280T>C ENSP00000312397.4:p.Met427Thr
ENST00000502381.1:n.806+1618T>C
ENST00000504208.5:c.*335-8898T>C ENSP00000423585.1:n.*335-8898T>C
ENST00000505853.1:c.1160T>C ENSP00000426173.1:p.Met387Thr
ENST00000506491.5:c.1034T>C ENSP00000424828.1:p.Met345Thr
ENST00000506873.5:n.844+1618T>C
ENST00000508657.5:c.1184T>C ENSP00000422099.1:p.Met395Thr
NM_001257194.1:c.1184T>C NP_001244123.1:p.Met395Thr
NM_001257195.1:c.1034T>C NP_001244124.1:p.Met345Thr
NM_017415.2:c.1280T>C NP_059111.2:p.Met427Thr
NM_017415.3:c.1280T>C MANE Select NP_059111.2:p.Met427Thr
NM_001257195.2:c.1034T>C NP_001244124.1:p.Met345Thr
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