Canonical Allele Identifier: CA8931982
Gene: KLHL14 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.32677304C>T
GRCh37 chr18:g.30257267C>T
Revel Score:
ENST00000359358 (MANE Select) 0.560
gnomAD v2:
18:30257267 C / T
gnomAD v4:
chr18-32677304-C-T
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000836 (EAS)
ClinVar Allele:
2216778
ClinVar RCV:
RCV004083220
ClinVar Variation:
2218247
dbSNP:
765954273
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.32677304C>T , CM000680.2:g.32677304C>T GRCh38
NC_000018.9:g.30257267C>T , CM000680.1:g.30257267C>T GRCh37
NC_000018.8:g.28511265C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359358.9:c.1615G>A MANE Select ENSP00000352314.4:p.Val539Met
ENST00000359358.8:c.1615G>A ENSP00000352314.4:p.Val539Met
NM_020805.1:c.1615G>A NP_065856.1:p.Val539Met
NM_020805.2:c.1615G>A NP_065856.1:p.Val539Met
XM_011526108.1:c.1708G>A XP_011524410.1:p.Val570Met
NM_020805.3:c.1615G>A MANE Select NP_065856.1:p.Val539Met
Search 100 bp 5'
Search 100 bp 3'