Canonical Allele Identifier: CA7866534

Gene: SLX4

Linked Data

• ClinVar Variation Id: 407935
• ClinVar RCV Id: RCV000519850 ; RCV000764064 ; RCV001088147 ; RCV001194850 ; RCV003492056
• dbSNP Id: rs149126845
• ExAC: 16:3647691 T / C
• gnomAD v2: 16-3647691-T-C
• gnomAD v3: 16-3597690-T-C
• gnomAD v4: 16-3597690-T-C
• MyVariant Identifiers: chr16:g.3647691T>C (hg19) ; chr16:g.3597690T>C (hg38)

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