Canonical Allele Identifier: CA10643578
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3582244T>C
GRCh37 chr16:g.3632245T>C
gnomAD v2:
16:3632245 T / C
gnomAD v3:
16:3582244 T / C
gnomAD v4:
chr16-3582244-T-C
Joint Max Group AF 0.00467622 (EAS)
Genomes Max Group AF 0.00151425 (EAS)
Exomes Max Group AF 0.00497345 (EAS)
ClinVar RCV:
RCV000398675
ClinVar Variation:
319142
dbSNP:
551538592
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3582244T>C , CM000678.2:g.3582244T>C GRCh38
NC_000016.9:g.3632245T>C , CM000678.1:g.3632245T>C GRCh37
NC_000016.8:g.3572246T>C NCBI36
NG_028123.1:g.34341A>G , LRG_503:g.34341A>G
NG_033123.1:g.148A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.*98A>G MANE Select ENSP00000294008.3:n.*98A>G
ENST00000294008.3:c.*98A>G ENSP00000294008.3:n.*98A>G
NM_032444.2:c.*98A>G , LRG_503t1:c.*98A>G NP_115820.2:n.*98A>G
XM_011522715.1:c.*98A>G XP_011521017.1:n.*98A>G
NM_032444.3:c.*98A>G NP_115820.2:n.*98A>G
XM_011522715.3:c.*98A>G XP_011521017.1:n.*98A>G
XM_017023775.2:c.*98A>G XP_016879264.1:n.*98A>G
XM_024450471.1:c.*98A>G XP_024306239.1:n.*98A>G
NM_032444.4:c.*98A>G MANE Select NP_115820.2:n.*98A>G
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