Canonical Allele Identifier: CA269979
Gene: KLHL3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.137628387G>T
GRCh37 chr5:g.136964076G>T
Revel Score:
ENST00000506491 0.538
ENST00000508657 0.538
ENST00000309755 (MANE Select) 0.538
ClinVar Allele:
106416
ClinVar RCV:
RCV000128511
ClinVar Variation:
100539
dbSNP:
199469634
JSON-LD

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
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