Canonical Allele Identifier: CA129302
Gene: KLHL3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.137637386G>A
GRCh37 chr5:g.136973075G>A
Revel Score:
ENST00000506491 0.746
ENST00000508657 0.746
ENST00000309755 (MANE Select) 0.746
ENST00000505853 0.746
gnomAD v2:
5:136973075 G / A
gnomAD v4:
chr5-137637386-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000023474
RCV000128521
ClinVar Variation:
30517
dbSNP:
199469641
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137637386G>A , CM000667.2:g.137637386G>A GRCh38
NC_000005.9:g.136973075G>A , CM000667.1:g.136973075G>A GRCh37
NC_000005.8:g.137000974G>A NCBI36
NG_032569.1:g.103705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1229C>T MANE Select ENSP00000312397.4:p.Ser410Leu
ENST00000309755.8:c.1229C>T ENSP00000312397.4:p.Ser410Leu
ENST00000502381.1:n.806+1567C>T
ENST00000504208.5:c.*335-8949C>T ENSP00000423585.1:n.*335-8949C>T
ENST00000505853.1:c.1109C>T ENSP00000426173.1:p.Ser370Leu
ENST00000506491.5:c.983C>T ENSP00000424828.1:p.Ser328Leu
ENST00000506873.5:n.844+1567C>T
ENST00000508657.5:c.1133C>T ENSP00000422099.1:p.Ser378Leu
NM_001257194.1:c.1133C>T NP_001244123.1:p.Ser378Leu
NM_001257195.1:c.983C>T NP_001244124.1:p.Ser328Leu
NM_017415.2:c.1229C>T NP_059111.2:p.Ser410Leu
NM_017415.3:c.1229C>T MANE Select NP_059111.2:p.Ser410Leu
NM_001257195.2:c.983C>T NP_001244124.1:p.Ser328Leu
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