Canonical Allele Identifier: CA7866957
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3608880G>A
GRCh37 chr16:g.3658881G>A
Revel Score:
ENST00000294008 (MANE Select) 0.089
gnomAD v2:
16:3658881 G / A
gnomAD v3:
16:3608880 G / A
gnomAD v4:
chr16-3608880-G-A
Joint Max Group AF 0.00052362 (NFE)
Genomes Max Group AF 0.00062457 (NFE)
Exomes Max Group AF 0.00050889 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3608880G>A , CM000678.2:g.3608880G>A GRCh38
NC_000016.9:g.3658881G>A , CM000678.1:g.3658881G>A GRCh37
NC_000016.8:g.3598882G>A NCBI36
NG_028123.1:g.7705C>T , LRG_503:g.7705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697859.1:n.707C>T
ENST00000294008.4:c.85C>T MANE Select ENSP00000294008.3:p.Arg29Cys
ENST00000294008.3:c.85C>T ENSP00000294008.3:p.Arg29Cys
ENST00000466154.5:n.380C>T
ENST00000486524.1:n.713C>T
NM_032444.2:c.85C>T , LRG_503t1:c.85C>T NP_115820.2:p.Arg29Cys
XM_011522715.1:c.85C>T XP_011521017.1:p.Arg29Cys
NM_032444.3:c.85C>T NP_115820.2:p.Arg29Cys
XM_011522715.3:c.85C>T XP_011521017.1:p.Arg29Cys
XM_024450471.1:c.85C>T XP_024306239.1:p.Arg29Cys
NM_032444.4:c.85C>T MANE Select NP_115820.2:p.Arg29Cys
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