Canonical Allele Identifier: CA130709
Gene: KLHL10 HGNC NCBI

Linked Data

ClinVar Variation Id: 40008
ClinVar RCV Id: RCV000033135 RCV000957607
dbSNP Id: rs116420871
ExAC: 17:39998527 A / C
gnomAD v2: 17-39998527-A-C
gnomAD v3: 17-41842275-A-C
gnomAD v4: 17-41842275-A-C
MyVariant Identifiers: chr17:g.39998527A>C (hg19) chr17:g.41842275A>C (hg38)
PubMed: PMID:17047026
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41842275A>C , CM000679.2:g.41842275A>C GRCh38
NC_000017.10:g.39998527A>C , CM000679.1:g.39998527A>C GRCh37
NC_000017.9:g.37252053A>C NCBI36
NG_051246.1:g.11591A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293303.5:c.647A>C MANE Select ENSP00000293303.4:p.Gln216Pro
ENST00000293303.4:c.647A>C ENSP00000293303.4:p.Gln216Pro
NM_152467.3:c.647A>C NP_689680.2:p.Gln216Pro
XM_011524706.1:c.647A>C XP_011523008.1:p.Gln216Pro
NM_001329595.1:c.647A>C NP_001316524.1:p.Gln216Pro
NM_001329596.1:c.383A>C NP_001316525.1:p.Gln128Pro
NM_152467.4:c.647A>C NP_689680.2:p.Gln216Pro
NM_001329596.2:c.383A>C NP_001316525.1:p.Gln128Pro
NM_152467.5:c.647A>C MANE Select NP_689680.2:p.Gln216Pro
Search 100 bp 5'
Search 100 bp 3'