Canonical Allele Identifier: CA7866881
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3608544C>A
GRCh37 chr16:g.3658545C>A
Revel Score:
ENST00000294008 (MANE Select) 0.073
gnomAD v2:
16:3658545 C / A
gnomAD v3:
16:3608544 C / A
gnomAD v4:
chr16-3608544-C-A
Joint Max Group AF 0.00088847 (NFE)
Genomes Max Group AF 0.00084765 (NFE)
Exomes Max Group AF 0.00088079 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3608544C>A , CM000678.2:g.3608544C>A GRCh38
NC_000016.9:g.3658545C>A , CM000678.1:g.3658545C>A GRCh37
NC_000016.8:g.3598546C>A NCBI36
NG_028123.1:g.8041G>T , LRG_503:g.8041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697859.1:n.1043G>T
ENST00000294008.4:c.421G>T MANE Select ENSP00000294008.3:p.Gly141Trp
ENST00000294008.3:c.421G>T ENSP00000294008.3:p.Gly141Trp
ENST00000466154.5:n.716G>T
ENST00000486524.1:n.1049G>T
NM_032444.2:c.421G>T , LRG_503t1:c.421G>T NP_115820.2:p.Gly141Trp
XM_011522715.1:c.421G>T XP_011521017.1:p.Gly141Trp
NM_032444.3:c.421G>T NP_115820.2:p.Gly141Trp
XM_011522715.3:c.421G>T XP_011521017.1:p.Gly141Trp
XM_024450471.1:c.421G>T XP_024306239.1:p.Gly141Trp
NM_032444.4:c.421G>T MANE Select NP_115820.2:p.Gly141Trp
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