Canonical Allele Identifier: CA10648344
Gene: SLX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 319129
ClinVar RCV Id: RCV000317054
dbSNP Id: rs115690937
gnomAD v2: 16-3631536-C-T
gnomAD v3: 16-3581535-C-T
gnomAD v4: 16-3581535-C-T
MyVariant Identifiers: chr16:g.3631536C>T (hg19) chr16:g.3581535C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3581535C>T , CM000678.2:g.3581535C>T GRCh38
NC_000016.9:g.3631536C>T , CM000678.1:g.3631536C>T GRCh37
NC_000016.8:g.3571537C>T NCBI36
NG_028123.1:g.35050G>A , LRG_503:g.35050G>A
NG_033123.1:g.857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.*807G>A MANE Select ENSP00000294008.3:n.*807G>A
ENST00000294008.3:c.*807G>A ENSP00000294008.3:n.*807G>A
NM_032444.2:c.*807G>A , LRG_503t1:c.*807G>A NP_115820.2:n.*807G>A
XM_011522715.1:c.*807G>A XP_011521017.1:n.*807G>A
NM_032444.3:c.*807G>A NP_115820.2:n.*807G>A
XM_011522715.3:c.*807G>A XP_011521017.1:n.*807G>A
XM_017023775.2:c.*807G>A XP_016879264.1:n.*807G>A
XM_024450471.1:c.*807G>A XP_024306239.1:n.*807G>A
NM_032444.4:c.*807G>A MANE Select NP_115820.2:n.*807G>A
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