Canonical Allele Identifier: CA7866305
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3594566C>T
GRCh37 chr16:g.3644567C>T
GRCh37 chr16:g.3644567_3644577delinsTGCCAAAGTCA
Revel Score:
ENST00000294008 (MANE Select) 0.030
gnomAD v2:
16:3644567 C / T
gnomAD v3:
16:3594566 C / T
gnomAD v4:
chr16-3594566-C-T
Joint Max Group AF 0.00212512 (AFR)
Genomes Max Group AF 0.00229199 (AFR)
Exomes Max Group AF 0.00166981 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3594566C>T , CM000678.2:g.3594566C>T GRCh38
NC_000016.9:g.3644567C>T , CM000678.1:g.3644567C>T GRCh37
NC_000016.8:g.3584568C>T NCBI36
NG_028123.1:g.22019G>A , LRG_503:g.22019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.2047G>A MANE Select ENSP00000294008.3:p.Ala683Thr
ENST00000294008.3:c.2047G>A ENSP00000294008.3:p.Ala683Thr
NM_032444.2:c.2047G>A , LRG_503t1:c.2047G>A NP_115820.2:p.Ala683Thr
XM_011522715.1:c.2047G>A XP_011521017.1:p.Ala683Thr
NM_032444.3:c.2047G>A NP_115820.2:p.Ala683Thr
XM_011522715.3:c.2047G>A XP_011521017.1:p.Ala683Thr
XM_017023775.2:c.1225G>A XP_016879264.1:p.Ala409Thr
XM_024450471.1:c.2047G>A XP_024306239.1:p.Ala683Thr
NM_032444.4:c.2047G>A MANE Select NP_115820.2:p.Ala683Thr
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