Canonical Allele Identifier: CA7866337

Gene: SLX4

Linked Data

• ClinVar Variation Id: 319169
• ClinVar RCV Id: RCV000386591 ; RCV000500030 ; RCV001094239 ; RCV003409497
• dbSNP Id: rs200807331
• ExAC: 16:3645613 C / T
• gnomAD v2: 16-3645613-C-T
• gnomAD v3: 16-3595612-C-T
• gnomAD v4: 16-3595612-C-T
• MyVariant Identifiers: chr16:g.3645613C>T (hg19) ; chr16:g.3595612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3595612C>T , CM000678.2:g.3595612C>T	GRCh38
NC_000016.9:g.3645613C>T , CM000678.1:g.3645613C>T	GRCh37
NC_000016.8:g.3585614C>T	NCBI36
NG_028123.1:g.20973G>A , LRG_503:g.20973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.2006G>A MANE Select	ENSP00000294008.3:p.Arg669His
ENST00000294008.3:c.2006G>A	ENSP00000294008.3:p.Arg669His
ENST00000466154.5:n.3227G>A
NM_032444.2:c.2006G>A , LRG_503t1:c.2006G>A	NP_115820.2:p.Arg669His
XM_011522715.1:c.2006G>A	XP_011521017.1:p.Arg669His
NM_032444.3:c.2006G>A	NP_115820.2:p.Arg669His
XM_011522715.3:c.2006G>A	XP_011521017.1:p.Arg669His
XM_017023775.2:c.1184G>A	XP_016879264.1:p.Arg395His
XM_024450471.1:c.2006G>A	XP_024306239.1:p.Arg669His
NM_032444.4:c.2006G>A MANE Select	NP_115820.2:p.Arg669His