Canonical Allele Identifier: CA7866728
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3602235C>T
GRCh37 chr16:g.3652236C>T
Revel Score:
ENST00000294008 (MANE Select) 0.024
gnomAD v2:
16:3652236 C / T
gnomAD v3:
16:3602235 C / T
gnomAD v4:
chr16-3602235-C-T
Joint Max Group AF 0.00316458 (SAS)
Genomes Max Group AF 0.00175532 (SAS)
Exomes Max Group AF 0.00318756 (SAS)
ClinVar Allele:
465722
ClinVar RCV:
RCV000549439
RCV001118505
RCV002263734
ClinVar Variation:
456339
dbSNP:
201192909
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3602235C>T , CM000678.2:g.3602235C>T GRCh38
NC_000016.9:g.3652236C>T , CM000678.1:g.3652236C>T GRCh37
NC_000016.8:g.3592237C>T NCBI36
NG_028123.1:g.14350G>A , LRG_503:g.14350G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697858.1:n.174G>A
ENST00000294008.4:c.833G>A MANE Select ENSP00000294008.3:p.Arg278Gln
ENST00000294008.3:c.833G>A ENSP00000294008.3:p.Arg278Gln
ENST00000466154.5:n.1128G>A
ENST00000486524.1:n.1461G>A
NM_032444.2:c.833G>A , LRG_503t1:c.833G>A NP_115820.2:p.Arg278Gln
XM_011522715.1:c.833G>A XP_011521017.1:p.Arg278Gln
NM_032444.3:c.833G>A NP_115820.2:p.Arg278Gln
XM_011522715.3:c.833G>A XP_011521017.1:p.Arg278Gln
XM_024450471.1:c.833G>A XP_024306239.1:p.Arg278Gln
NM_032444.4:c.833G>A MANE Select NP_115820.2:p.Arg278Gln
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