Canonical Allele Identifier: CA7866779
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3606526C>T
GRCh37 chr16:g.3656527C>T
gnomAD v2:
16:3656527 C / T
gnomAD v3:
16:3606526 C / T
gnomAD v4:
chr16-3606526-C-T
Joint Max Group AF 0.00001567 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00001377 (NFE)
ClinVar Allele:
429805
ClinVar RCV:
RCV000500148
RCV001446504
ClinVar Variation:
436786
dbSNP:
765742613
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3606526C>T , CM000678.2:g.3606526C>T GRCh38
NC_000016.9:g.3656527C>T , CM000678.1:g.3656527C>T GRCh37
NC_000016.8:g.3596528C>T NCBI36
NG_028123.1:g.10059G>A , LRG_503:g.10059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697858.1:n.49G>A
ENST00000294008.4:c.708G>A MANE Select ENSP00000294008.3:p.Ala236=
ENST00000294008.3:c.708G>A ENSP00000294008.3:p.Ala236=
ENST00000466154.5:n.1003G>A
ENST00000486524.1:n.1336G>A
NM_032444.2:c.708G>A , LRG_503t1:c.708G>A NP_115820.2:p.Ala236=
XM_011522715.1:c.708G>A XP_011521017.1:p.Ala236=
NM_032444.3:c.708G>A NP_115820.2:p.Ala236=
XM_011522715.3:c.708G>A XP_011521017.1:p.Ala236=
XM_024450471.1:c.708G>A XP_024306239.1:p.Ala236=
NM_032444.4:c.708G>A MANE Select NP_115820.2:p.Ala236=
Search 100 bp 5'
Search 100 bp 3'