Canonical Allele Identifier: CA10622704
Gene: KLHL3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.137621957G>A
GRCh37 chr5:g.136957646G>A
gnomAD v2:
5:136957646 G / A
gnomAD v3:
5:137621957 G / A
gnomAD v4:
chr5-137621957-G-A
Joint Max Group AF 0.00680554 (EAS)
Genomes Max Group AF 0.00432061 (EAS)
Exomes Max Group AF 0.00696787 (EAS)
ClinVar RCV:
RCV000279955
RCV001154117
ClinVar Variation:
350981
dbSNP:
189064290
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137621957G>A , CM000667.2:g.137621957G>A GRCh38
NC_000005.9:g.136957646G>A , CM000667.1:g.136957646G>A GRCh37
NC_000005.8:g.136985545G>A NCBI36
NG_032569.1:g.119134C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.*141C>T MANE Select ENSP00000312397.4:n.*141C>T
ENST00000309755.8:c.*141C>T ENSP00000312397.4:n.*141C>T
ENST00000447439.6:n.1961C>T
ENST00000504208.5:c.*789C>T ENSP00000423585.1:n.*789C>T
ENST00000506491.5:c.*141C>T ENSP00000424828.1:n.*141C>T
ENST00000506873.5:n.1428C>T
ENST00000508657.5:c.*141C>T ENSP00000422099.1:n.*141C>T
ENST00000509694.1:n.623-4093C>T
NM_001257194.1:c.*141C>T NP_001244123.1:n.*141C>T
NM_001257195.1:c.*141C>T NP_001244124.1:n.*141C>T
NM_017415.2:c.*141C>T NP_059111.2:n.*141C>T
NM_017415.3:c.*141C>T MANE Select NP_059111.2:n.*141C>T
NM_001257195.2:c.*141C>T NP_001244124.1:n.*141C>T
Search 100 bp 5'
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