Canonical Allele Identifier: CA10619068
Gene: KLHL3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.137620515G>A
GRCh37 chr5:g.136956204G>A
gnomAD v3:
5:137620515 G / A
gnomAD v4:
chr5-137620515-G-A
Joint Max Group AF 0.00159464 (SAS)
Genomes Max Group AF 0.00159464 (SAS)
ClinVar RCV:
RCV000350076
RCV001154858
ClinVar Variation:
350962
dbSNP:
554048189
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137620515G>A , CM000667.2:g.137620515G>A GRCh38
NC_000005.9:g.136956204G>A , CM000667.1:g.136956204G>A GRCh37
NC_000005.8:g.136984103G>A NCBI36
NG_032569.1:g.120576C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.*1583C>T MANE Select ENSP00000312397.4:n.*1583C>T
ENST00000309755.8:c.*1583C>T ENSP00000312397.4:n.*1583C>T
ENST00000506491.5:c.*1583C>T ENSP00000424828.1:n.*1583C>T
ENST00000508657.5:c.*1583C>T ENSP00000422099.1:n.*1583C>T
ENST00000509694.1:n.623-2651C>T
NM_001257194.1:c.*1583C>T NP_001244123.1:n.*1583C>T
NM_001257195.1:c.*1583C>T NP_001244124.1:n.*1583C>T
NM_017415.2:c.*1583C>T NP_059111.2:n.*1583C>T
NM_017415.3:c.*1583C>T MANE Select NP_059111.2:n.*1583C>T
NM_001257195.2:c.*1583C>T NP_001244124.1:n.*1583C>T
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