Canonical Allele Identifier: CA7866124
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3591029G>A
GRCh37 chr16:g.3641030G>A
Revel Score:
ENST00000294008 (MANE Select) 0.045
gnomAD v2:
16:3641030 G / A
gnomAD v3:
16:3591029 G / A
gnomAD v4:
chr16-3591029-G-A
Joint Max Group AF 0.00092311 (SAS)
Genomes Max Group AF 0.00044369 (NFE)
Exomes Max Group AF 0.00093244 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3591029G>A , CM000678.2:g.3591029G>A GRCh38
NC_000016.9:g.3641030G>A , CM000678.1:g.3641030G>A GRCh37
NC_000016.8:g.3581031G>A NCBI36
NG_028123.1:g.25556C>T , LRG_503:g.25556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.2609C>T MANE Select ENSP00000294008.3:p.Ala870Val
ENST00000294008.3:c.2609C>T ENSP00000294008.3:p.Ala870Val
NM_032444.2:c.2609C>T , LRG_503t1:c.2609C>T NP_115820.2:p.Ala870Val
XM_011522715.1:c.2609C>T XP_011521017.1:p.Ala870Val
NM_032444.3:c.2609C>T NP_115820.2:p.Ala870Val
XM_011522715.3:c.2609C>T XP_011521017.1:p.Ala870Val
XM_017023775.2:c.1787C>T XP_016879264.1:p.Ala596Val
XM_024450471.1:c.2609C>T XP_024306239.1:p.Ala870Val
NM_032444.4:c.2609C>T MANE Select NP_115820.2:p.Ala870Val
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