Canonical Allele Identifier: CA7866772
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3606492C>T
GRCh37 chr16:g.3656493C>T
Revel Score:
ENST00000294008 (MANE Select) 0.064
gnomAD v2:
16:3656493 C / T
gnomAD v3:
16:3606492 C / T
gnomAD v4:
chr16-3606492-C-T
Joint Max Group AF 0.00045418 (NFE)
Genomes Max Group AF 0.00030408 (NFE)
Exomes Max Group AF 0.00045679 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3606492C>T , CM000678.2:g.3606492C>T GRCh38
NC_000016.9:g.3656493C>T , CM000678.1:g.3656493C>T GRCh37
NC_000016.8:g.3596494C>T NCBI36
NG_028123.1:g.10093G>A , LRG_503:g.10093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697858.1:n.83G>A
ENST00000294008.4:c.742G>A MANE Select ENSP00000294008.3:p.Glu248Lys
ENST00000294008.3:c.742G>A ENSP00000294008.3:p.Glu248Lys
ENST00000466154.5:n.1037G>A
ENST00000486524.1:n.1370G>A
NM_032444.2:c.742G>A , LRG_503t1:c.742G>A NP_115820.2:p.Glu248Lys
XM_011522715.1:c.742G>A XP_011521017.1:p.Glu248Lys
NM_032444.3:c.742G>A NP_115820.2:p.Glu248Lys
XM_011522715.3:c.742G>A XP_011521017.1:p.Glu248Lys
XM_024450471.1:c.742G>A XP_024306239.1:p.Glu248Lys
NM_032444.4:c.742G>A MANE Select NP_115820.2:p.Glu248Lys
Search 100 bp 5'
Search 100 bp 3'