Canonical Allele Identifier: CA7866305

Gene: SLX4

Linked Data

• ClinVar Variation Id: 414725
• ClinVar RCV Id: RCV000477483 ; RCV001821336 ; RCV002221543
• dbSNP Id: rs115866745
• ExAC: 16:3644567 C / T
• gnomAD v2: 16-3644567-C-T
• gnomAD v3: 16-3594566-C-T
• gnomAD v4: 16-3594566-C-T
• COSMIC: COSM4060662
• MyVariant Identifiers: chr16:g.3644567C>T (hg19) ; chr16:g.3644567_3644577delinsTGCCAAAGTCA (hg19) ; chr16:g.3594566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3594566C>T , CM000678.2:g.3594566C>T	GRCh38
NC_000016.9:g.3644567C>T , CM000678.1:g.3644567C>T	GRCh37
NC_000016.8:g.3584568C>T	NCBI36
NG_028123.1:g.22019G>A , LRG_503:g.22019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.2047G>A MANE Select	ENSP00000294008.3:p.Ala683Thr
ENST00000294008.3:c.2047G>A	ENSP00000294008.3:p.Ala683Thr
NM_032444.2:c.2047G>A , LRG_503t1:c.2047G>A	NP_115820.2:p.Ala683Thr
XM_011522715.1:c.2047G>A	XP_011521017.1:p.Ala683Thr
NM_032444.3:c.2047G>A	NP_115820.2:p.Ala683Thr
XM_011522715.3:c.2047G>A	XP_011521017.1:p.Ala683Thr
XM_017023775.2:c.1225G>A	XP_016879264.1:p.Ala409Thr
XM_024450471.1:c.2047G>A	XP_024306239.1:p.Ala683Thr
NM_032444.4:c.2047G>A MANE Select	NP_115820.2:p.Ala683Thr