Canonical Allele Identifier: CA7866665
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3601169T>A
GRCh37 chr16:g.3651170T>A
Revel Score:
ENST00000294008 (MANE Select) 0.015
gnomAD v2:
16:3651170 T / A
gnomAD v3:
16:3601169 T / A
gnomAD v4:
chr16-3601169-T-A
Joint Max Group AF 0.00018826 (EAS)
Genomes Max Group AF 0.00006847 (EAS)
Exomes Max Group AF 0.00017342 (EAS)
ClinVar RCV:
RCV000461785
ClinVar Variation:
407921
dbSNP:
181942292
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3601169T>A , CM000678.2:g.3601169T>A GRCh38
NC_000016.9:g.3651170T>A , CM000678.1:g.3651170T>A GRCh37
NC_000016.8:g.3591171T>A NCBI36
NG_028123.1:g.15416A>T , LRG_503:g.15416A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697858.1:n.314A>T
ENST00000294008.4:c.973A>T MANE Select ENSP00000294008.3:p.Thr325Ser
ENST00000294008.3:c.973A>T ENSP00000294008.3:p.Thr325Ser
ENST00000466154.5:n.2194A>T
ENST00000486524.1:n.2527A>T
NM_032444.2:c.973A>T , LRG_503t1:c.973A>T NP_115820.2:p.Thr325Ser
XM_011522715.1:c.973A>T XP_011521017.1:p.Thr325Ser
NM_032444.3:c.973A>T NP_115820.2:p.Thr325Ser
XM_011522715.3:c.973A>T XP_011521017.1:p.Thr325Ser
XM_024450471.1:c.973A>T XP_024306239.1:p.Thr325Ser
NM_032444.4:c.973A>T MANE Select NP_115820.2:p.Thr325Ser
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