Canonical Allele Identifier: CA7865928
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3590268T>C
GRCh37 chr16:g.3640269T>C
Revel Score:
ENST00000294008 (MANE Select) 0.093
gnomAD v2:
16:3640269 T / C
gnomAD v3:
16:3590268 T / C
gnomAD v4:
chr16-3590268-T-C
Joint Max Group AF 0.00044706 (SAS)
Genomes Max Group AF 0.00007293 (SAS)
Exomes Max Group AF 0.00045159 (SAS)
ClinVar Allele:
429795
ClinVar RCV:
RCV000504455
RCV001857166
RCV004023404
ClinVar Variation:
436780
dbSNP:
766081510
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3590268T>C , CM000678.2:g.3590268T>C GRCh38
NC_000016.9:g.3640269T>C , CM000678.1:g.3640269T>C GRCh37
NC_000016.8:g.3580270T>C NCBI36
NG_028123.1:g.26317A>G , LRG_503:g.26317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.3370A>G MANE Select ENSP00000294008.3:p.Ile1124Val
ENST00000294008.3:c.3370A>G ENSP00000294008.3:p.Ile1124Val
NM_032444.2:c.3370A>G , LRG_503t1:c.3370A>G NP_115820.2:p.Ile1124Val
XM_011522715.1:c.3370A>G XP_011521017.1:p.Ile1124Val
NM_032444.3:c.3370A>G NP_115820.2:p.Ile1124Val
XM_011522715.3:c.3370A>G XP_011521017.1:p.Ile1124Val
XM_017023775.2:c.2548A>G XP_016879264.1:p.Ile850Val
XM_024450471.1:c.3370A>G XP_024306239.1:p.Ile1124Val
NM_032444.4:c.3370A>G MANE Select NP_115820.2:p.Ile1124Val
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