Canonical Allele Identifier: CA7866337
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3595612C>T
GRCh37 chr16:g.3645613C>T
Revel Score:
ENST00000294008 (MANE Select) 0.009
gnomAD v2:
16:3645613 C / T
gnomAD v3:
16:3595612 C / T
gnomAD v4:
chr16-3595612-C-T
Joint Max Group AF 0.00011126 (NFE)
Genomes Max Group AF 0.00010172 (NFE)
Exomes Max Group AF 0.0001078 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3595612C>T , CM000678.2:g.3595612C>T GRCh38
NC_000016.9:g.3645613C>T , CM000678.1:g.3645613C>T GRCh37
NC_000016.8:g.3585614C>T NCBI36
NG_028123.1:g.20973G>A , LRG_503:g.20973G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.2006G>A MANE Select ENSP00000294008.3:p.Arg669His
ENST00000294008.3:c.2006G>A ENSP00000294008.3:p.Arg669His
ENST00000466154.5:n.3227G>A
NM_032444.2:c.2006G>A , LRG_503t1:c.2006G>A NP_115820.2:p.Arg669His
XM_011522715.1:c.2006G>A XP_011521017.1:p.Arg669His
NM_032444.3:c.2006G>A NP_115820.2:p.Arg669His
XM_011522715.3:c.2006G>A XP_011521017.1:p.Arg669His
XM_017023775.2:c.1184G>A XP_016879264.1:p.Arg395His
XM_024450471.1:c.2006G>A XP_024306239.1:p.Arg669His
NM_032444.4:c.2006G>A MANE Select NP_115820.2:p.Arg669His
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