Canonical Allele Identifier: CA338775
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3608626A>G
GRCh37 chr16:g.3658627A>G
gnomAD v2:
16:3658627 A / G
gnomAD v3:
16:3608626 A / G
gnomAD v4:
chr16-3608626-A-G
Joint Max Group AF 0.0009866 (NFE)
Genomes Max Group AF 0.00096756 (NFE)
Exomes Max Group AF 0.00097694 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3608626A>G , CM000678.2:g.3608626A>G GRCh38
NC_000016.9:g.3658627A>G , CM000678.1:g.3658627A>G GRCh37
NC_000016.8:g.3598628A>G NCBI36
NG_028123.1:g.7959T>C , LRG_503:g.7959T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697859.1:n.961T>C
ENST00000294008.4:c.339T>C MANE Select ENSP00000294008.3:p.Ser113=
ENST00000294008.3:c.339T>C ENSP00000294008.3:p.Ser113=
ENST00000466154.5:n.634T>C
ENST00000486524.1:n.967T>C
NM_032444.2:c.339T>C , LRG_503t1:c.339T>C NP_115820.2:p.Ser113=
XM_011522715.1:c.339T>C XP_011521017.1:p.Ser113=
NM_032444.3:c.339T>C NP_115820.2:p.Ser113=
XM_011522715.3:c.339T>C XP_011521017.1:p.Ser113=
XM_024450471.1:c.339T>C XP_024306239.1:p.Ser113=
NM_032444.4:c.339T>C MANE Select NP_115820.2:p.Ser113=
Search 100 bp 5'
Search 100 bp 3'