Canonical Allele Identifier: CA7866534
Gene: SLX4 HGNC NCBI
ClinVar RCV:
RCV000519850
RCV000764064
RCV001088147
RCV001194850
RCV003492056
ClinVar Variation:
407935
dbSNP:
149126845
gnomAD v2:
16:3647691 T / C
gnomAD v3:
16:3597690 T / C
gnomAD v4:
chr16-3597690-T-C
Joint Max Group AF 0.0015548 (AMR)
Genomes Max Group AF 0.00087514 (NFE)
Exomes Max Group AF 0.00167708 (AMR)
MyVariant.info:
GRCh38 chr16:g.3597690T>C
GRCh37 chr16:g.3647691T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3597690T>C , CM000678.2:g.3597690T>C GRCh38
NC_000016.9:g.3647691T>C , CM000678.1:g.3647691T>C GRCh37
NC_000016.8:g.3587692T>C NCBI36
NG_028123.1:g.18895A>G , LRG_503:g.18895A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.1372A>G MANE Select ENSP00000294008.3:p.Lys458Glu
ENST00000294008.3:c.1372A>G ENSP00000294008.3:p.Lys458Glu
ENST00000466154.5:n.2593A>G
NM_032444.2:c.1372A>G , LRG_503t1:c.1372A>G NP_115820.2:p.Lys458Glu
XM_011522715.1:c.1372A>G XP_011521017.1:p.Lys458Glu
NM_032444.3:c.1372A>G NP_115820.2:p.Lys458Glu
XM_011522715.3:c.1372A>G XP_011521017.1:p.Lys458Glu
XM_017023775.2:c.550A>G XP_016879264.1:p.Lys184Glu
XM_024450471.1:c.1372A>G XP_024306239.1:p.Lys458Glu
NM_032444.4:c.1372A>G MANE Select NP_115820.2:p.Lys458Glu
Search 100 bp 5'
Search 100 bp 3'