Canonical Allele Identifier: CA7866959
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3608892C>T
GRCh37 chr16:g.3658893C>T
Revel Score:
ENST00000294008 (MANE Select) 0.013
gnomAD v2:
16:3658893 C / T
gnomAD v3:
16:3608892 C / T
gnomAD v4:
chr16-3608892-C-T
Joint Max Group AF 0.00185352 (EAS)
Genomes Max Group AF 0.00224285 (EAS)
Exomes Max Group AF 0.00168222 (EAS)
ClinVar Allele:
401180
ClinVar RCV:
RCV000472372
RCV001821331
ClinVar Variation:
414706
dbSNP:
201533738
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3608892C>T , CM000678.2:g.3608892C>T GRCh38
NC_000016.9:g.3658893C>T , CM000678.1:g.3658893C>T GRCh37
NC_000016.8:g.3598894C>T NCBI36
NG_028123.1:g.7693G>A , LRG_503:g.7693G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697859.1:n.695G>A
ENST00000294008.4:c.73G>A MANE Select ENSP00000294008.3:p.Gly25Arg
ENST00000294008.3:c.73G>A ENSP00000294008.3:p.Gly25Arg
ENST00000466154.5:n.368G>A
ENST00000486524.1:n.701G>A
NM_032444.2:c.73G>A , LRG_503t1:c.73G>A NP_115820.2:p.Gly25Arg
XM_011522715.1:c.73G>A XP_011521017.1:p.Gly25Arg
NM_032444.3:c.73G>A NP_115820.2:p.Gly25Arg
XM_011522715.3:c.73G>A XP_011521017.1:p.Gly25Arg
XM_024450471.1:c.73G>A XP_024306239.1:p.Gly25Arg
NM_032444.4:c.73G>A MANE Select NP_115820.2:p.Gly25Arg
Search 100 bp 5'
Search 100 bp 3'