Canonical Allele Identifier: CA6434113
Gene: CLEC4E HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.8534799C>T
GRCh37 chr12:g.8687395C>T
Revel Score:
ENST00000299663 (MANE Select) 0.035
ENST00000545274 0.035
ENST00000537698 0.035
gnomAD v2:
12:8687395 C / T
gnomAD v4:
chr12-8534799-C-T
Joint Max Group AF 0.00004302 (AMR)
Exomes Max Group AF 0.00005841 (AMR)
ClinVar RCV:
RCV004205533
ClinVar Variation:
2360689
dbSNP:
756443256
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8534799C>T , CM000674.2:g.8534799C>T GRCh38
NC_000012.11:g.8687395C>T , CM000674.1:g.8687395C>T GRCh37
NC_000012.10:g.8578662C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299663.8:c.499G>A MANE Select ENSP00000299663.3:p.Val167Ile
ENST00000299663.7:c.499G>A ENSP00000299663.3:p.Val167Ile
ENST00000446457.6:c.*27G>A ENSP00000387737.2:n.*27G>A
ENST00000450725.2:c.*143G>A ENSP00000404994.2:n.*143G>A
ENST00000537698.1:c.202G>A
ENST00000545274.5:c.364G>A ENSP00000443034.1:p.Val122Ile
NM_014358.3:c.499G>A NP_055173.1:p.Val167Ile
XM_011520614.1:c.406G>A XP_011518916.1:p.Val136Ile
XM_011520615.1:c.364G>A XP_011518917.1:p.Val122Ile
XM_011520614.3:c.406G>A XP_011518916.1:p.Val136Ile
NM_014358.4:c.499G>A MANE Select NP_055173.1:p.Val167Ile
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