Canonical Allele Identifier: CA208149
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3582566G>A
GRCh37 chr16:g.3632567G>A
Revel Score:
ENST00000294008 (MANE Select) 0.071
gnomAD v2:
16:3632567 G / A
gnomAD v3:
16:3582566 G / A
gnomAD v4:
chr16-3582566-G-A
Joint Max Group AF 0.0246805 (AFR)
Genomes Max Group AF 0.02330617 (AFR)
Exomes Max Group AF 0.02551204 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3582566G>A , CM000678.2:g.3582566G>A GRCh38
NC_000016.9:g.3632567G>A , CM000678.1:g.3632567G>A GRCh37
NC_000016.8:g.3572568G>A NCBI36
NG_028123.1:g.34019C>T , LRG_503:g.34019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.5281C>T MANE Select ENSP00000294008.3:p.Arg1761Cys
ENST00000294008.3:c.5281C>T ENSP00000294008.3:p.Arg1761Cys
NM_032444.2:c.5281C>T , LRG_503t1:c.5281C>T NP_115820.2:p.Arg1761Cys
XM_011522715.1:c.5278C>T XP_011521017.1:p.Arg1760Cys
NM_032444.3:c.5281C>T NP_115820.2:p.Arg1761Cys
XM_011522715.3:c.5278C>T XP_011521017.1:p.Arg1760Cys
XM_017023775.2:c.4459C>T XP_016879264.1:p.Arg1487Cys
XM_024450471.1:c.5281C>T XP_024306239.1:p.Arg1761Cys
NM_032444.4:c.5281C>T MANE Select NP_115820.2:p.Arg1761Cys
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