Canonical Allele Identifier: CA129796
Gene: KLHL3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.137637338G>A
GRCh37 chr5:g.136973027G>A
Revel Score:
ENST00000506491 0.718
ENST00000508657 0.718
ENST00000309755 (MANE Select) 0.718
ENST00000505853 0.718
gnomAD v2:
5:136973027 G / A
gnomAD v3:
5:137637338 G / A
gnomAD v4:
chr5-137637338-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000024254
ClinVar Variation:
31546
dbSNP:
387907156
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137637338G>A , CM000667.2:g.137637338G>A GRCh38
NC_000005.9:g.136973027G>A , CM000667.1:g.136973027G>A GRCh37
NC_000005.8:g.137000926G>A NCBI36
NG_032569.1:g.103753C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1277C>T MANE Select ENSP00000312397.4:p.Pro426Leu
ENST00000309755.8:c.1277C>T ENSP00000312397.4:p.Pro426Leu
ENST00000502381.1:n.806+1615C>T
ENST00000504208.5:c.*335-8901C>T ENSP00000423585.1:n.*335-8901C>T
ENST00000505853.1:c.1157C>T ENSP00000426173.1:p.Pro386Leu
ENST00000506491.5:c.1031C>T ENSP00000424828.1:p.Pro344Leu
ENST00000506873.5:n.844+1615C>T
ENST00000508657.5:c.1181C>T ENSP00000422099.1:p.Pro394Leu
NM_001257194.1:c.1181C>T NP_001244123.1:p.Pro394Leu
NM_001257195.1:c.1031C>T NP_001244124.1:p.Pro344Leu
NM_017415.2:c.1277C>T NP_059111.2:p.Pro426Leu
NM_017415.3:c.1277C>T MANE Select NP_059111.2:p.Pro426Leu
NM_001257195.2:c.1031C>T NP_001244124.1:p.Pro344Leu
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