Canonical Allele Identifier: CA7865760
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3589614T>C
GRCh37 chr16:g.3639615T>C
Revel Score:
ENST00000294008 (MANE Select) 0.043
gnomAD v2:
16:3639615 T / C
gnomAD v3:
16:3589614 T / C
gnomAD v4:
chr16-3589614-T-C
Joint Max Group AF 0.00008258 (NFE)
Genomes Max Group AF 0.0000905 (NFE)
Exomes Max Group AF 0.00007861 (NFE)
ClinVar Allele:
429794
ClinVar RCV:
RCV000502403
RCV000862104
RCV001118202
ClinVar Variation:
436779
dbSNP:
140051968
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3589614T>C , CM000678.2:g.3589614T>C GRCh38
NC_000016.9:g.3639615T>C , CM000678.1:g.3639615T>C GRCh37
NC_000016.8:g.3579616T>C NCBI36
NG_028123.1:g.26971A>G , LRG_503:g.26971A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.4024A>G MANE Select ENSP00000294008.3:p.Ser1342Gly
ENST00000294008.3:c.4024A>G ENSP00000294008.3:p.Ser1342Gly
NM_032444.2:c.4024A>G , LRG_503t1:c.4024A>G NP_115820.2:p.Ser1342Gly
XM_011522715.1:c.4024A>G XP_011521017.1:p.Ser1342Gly
NM_032444.3:c.4024A>G NP_115820.2:p.Ser1342Gly
XM_011522715.3:c.4024A>G XP_011521017.1:p.Ser1342Gly
XM_017023775.2:c.3202A>G XP_016879264.1:p.Ser1068Gly
XM_024450471.1:c.4024A>G XP_024306239.1:p.Ser1342Gly
NM_032444.4:c.4024A>G MANE Select NP_115820.2:p.Ser1342Gly
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