Canonical Allele Identifier: CA7866858
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3608476A>C
GRCh37 chr16:g.3658477A>C
gnomAD v2:
16:3658477 A / C
gnomAD v3:
16:3608476 A / C
gnomAD v4:
chr16-3608476-A-C
Joint Max Group AF 0.00135588 (AMR)
Genomes Max Group AF 0.00012873 (AMR)
Exomes Max Group AF 0.00171706 (AMR)
ClinVar Allele:
334950
ClinVar RCV:
RCV000350282
RCV001094431
ClinVar Variation:
319186
dbSNP:
201211891
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3608476A>C , CM000678.2:g.3608476A>C GRCh38
NC_000016.9:g.3658477A>C , CM000678.1:g.3658477A>C GRCh37
NC_000016.8:g.3598478A>C NCBI36
NG_028123.1:g.8109T>G , LRG_503:g.8109T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697859.1:n.1111T>G
ENST00000294008.4:c.489T>G MANE Select ENSP00000294008.3:p.Gly163=
ENST00000294008.3:c.489T>G ENSP00000294008.3:p.Gly163=
ENST00000466154.5:n.784T>G
ENST00000486524.1:n.1117T>G
NM_032444.2:c.489T>G , LRG_503t1:c.489T>G NP_115820.2:p.Gly163=
XM_011522715.1:c.489T>G XP_011521017.1:p.Gly163=
NM_032444.3:c.489T>G NP_115820.2:p.Gly163=
XM_011522715.3:c.489T>G XP_011521017.1:p.Gly163=
XM_024450471.1:c.489T>G XP_024306239.1:p.Gly163=
NM_032444.4:c.489T>G MANE Select NP_115820.2:p.Gly163=
Search 100 bp 5'
Search 100 bp 3'