Canonical Allele Identifier: CA7866638
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3601027C>T
GRCh37 chr16:g.3651028C>T
Revel Score:
ENST00000294008 (MANE Select) 0.091
gnomAD v2:
16:3651028 C / T
gnomAD v3:
16:3601027 C / T
gnomAD v4:
chr16-3601027-C-T
Joint Max Group AF 0.00012479 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00015445 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3601027C>T , CM000678.2:g.3601027C>T GRCh38
NC_000016.9:g.3651028C>T , CM000678.1:g.3651028C>T GRCh37
NC_000016.8:g.3591029C>T NCBI36
NG_028123.1:g.15558G>A , LRG_503:g.15558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697858.1:n.456G>A
ENST00000294008.4:c.1115G>A MANE Select ENSP00000294008.3:p.Arg372Gln
ENST00000294008.3:c.1115G>A ENSP00000294008.3:p.Arg372Gln
ENST00000466154.5:n.2336G>A
ENST00000486524.1:n.2669G>A
NM_032444.2:c.1115G>A , LRG_503t1:c.1115G>A NP_115820.2:p.Arg372Gln
XM_011522715.1:c.1115G>A XP_011521017.1:p.Arg372Gln
NM_032444.3:c.1115G>A NP_115820.2:p.Arg372Gln
XM_011522715.3:c.1115G>A XP_011521017.1:p.Arg372Gln
XM_017023775.2:c.-813G>A XP_016879264.1:n.-813G>A
XM_024450471.1:c.1115G>A XP_024306239.1:p.Arg372Gln
NM_032444.4:c.1115G>A MANE Select NP_115820.2:p.Arg372Gln
Search 100 bp 5'
Search 100 bp 3'