Canonical Allele Identifier: CA7866815

Gene: SLX4

Linked Data

• ClinVar Variation Id: 241698
• ClinVar RCV Id: RCV000234484 ; RCV000502872 ; RCV001120033 ; RCV001084818 ; RCV003939891
• dbSNP Id: rs147826749
• ExAC: 16:3656645 A / G
• gnomAD v2: 16-3656645-A-G
• gnomAD v3: 16-3606644-A-G
• gnomAD v4: 16-3606644-A-G
• MyVariant Identifiers: chr16:g.3656645A>G (hg19) ; chr16:g.3606644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3606644A>G , CM000678.2:g.3606644A>G	GRCh38
NC_000016.9:g.3656645A>G , CM000678.1:g.3656645A>G	GRCh37
NC_000016.8:g.3596646A>G	NCBI36
NG_028123.1:g.9941T>C , LRG_503:g.9941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.590T>C MANE Select	ENSP00000294008.3:p.Val197Ala
ENST00000294008.3:c.590T>C	ENSP00000294008.3:p.Val197Ala
ENST00000466154.5:n.885T>C
ENST00000486524.1:n.1218T>C
NM_032444.2:c.590T>C , LRG_503t1:c.590T>C	NP_115820.2:p.Val197Ala
XM_011522715.1:c.590T>C	XP_011521017.1:p.Val197Ala
NM_032444.3:c.590T>C	NP_115820.2:p.Val197Ala
XM_011522715.3:c.590T>C	XP_011521017.1:p.Val197Ala
XM_024450471.1:c.590T>C	XP_024306239.1:p.Val197Ala
NM_032444.4:c.590T>C MANE Select	NP_115820.2:p.Val197Ala