Canonical Allele Identifier: CA269983
Gene: KLHL3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.137639021C>T
GRCh37 chr5:g.136974710C>T
Revel Score:
ENST00000506491 0.906
ENST00000508657 0.906
ENST00000309755 (MANE Select) 0.906
ENST00000505853 0.906
gnomAD v2:
5:136974710 C / T
gnomAD v3:
5:137639021 C / T
gnomAD v4:
chr5-137639021-C-T
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000128516
ClinVar Variation:
100544
dbSNP:
199469629
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639021C>T , CM000667.2:g.137639021C>T GRCh38
NC_000005.9:g.136974710C>T , CM000667.1:g.136974710C>T GRCh37
NC_000005.8:g.137002609C>T NCBI36
NG_032569.1:g.102070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1151G>A MANE Select ENSP00000312397.4:p.Arg384Gln
ENST00000309755.8:c.1151G>A ENSP00000312397.4:p.Arg384Gln
ENST00000502381.1:n.738G>A
ENST00000504208.5:c.*335-10584G>A ENSP00000423585.1:n.*335-10584G>A
ENST00000505853.1:c.1031G>A ENSP00000426173.1:p.Arg344Gln
ENST00000506491.5:c.905G>A ENSP00000424828.1:p.Arg302Gln
ENST00000506873.5:n.776G>A
ENST00000508657.5:c.1055G>A ENSP00000422099.1:p.Arg352Gln
NM_001257194.1:c.1055G>A NP_001244123.1:p.Arg352Gln
NM_001257195.1:c.905G>A NP_001244124.1:p.Arg302Gln
NM_017415.2:c.1151G>A NP_059111.2:p.Arg384Gln
NM_017415.3:c.1151G>A MANE Select NP_059111.2:p.Arg384Gln
NM_001257195.2:c.905G>A NP_001244124.1:p.Arg302Gln
Search 100 bp 5'
Search 100 bp 3'