Canonical Allele Identifier: CA7866169

Gene: SLX4

Linked Data

• ClinVar Variation Id: 407938
• ClinVar RCV Id: RCV000464063 ; RCV000502866 ; RCV001121832 ; RCV001081719 ; RCV003912802
• dbSNP Id: rs140600202
• ExAC: 16:3641280 C / T
• gnomAD v2: 16-3641280-C-T
• gnomAD v3: 16-3591279-C-T
• gnomAD v4: 16-3591279-C-T
• MyVariant Identifiers: chr16:g.3641280C>T (hg19) ; chr16:g.3591279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3591279C>T , CM000678.2:g.3591279C>T	GRCh38
NC_000016.9:g.3641280C>T , CM000678.1:g.3641280C>T	GRCh37
NC_000016.8:g.3581281C>T	NCBI36
NG_028123.1:g.25306G>A , LRG_503:g.25306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.2359G>A MANE Select	ENSP00000294008.3:p.Glu787Lys
ENST00000294008.3:c.2359G>A	ENSP00000294008.3:p.Glu787Lys
NM_032444.2:c.2359G>A , LRG_503t1:c.2359G>A	NP_115820.2:p.Glu787Lys
XM_011522715.1:c.2359G>A	XP_011521017.1:p.Glu787Lys
NM_032444.3:c.2359G>A	NP_115820.2:p.Glu787Lys
XM_011522715.3:c.2359G>A	XP_011521017.1:p.Glu787Lys
XM_017023775.2:c.1537G>A	XP_016879264.1:p.Glu513Lys
XM_024450471.1:c.2359G>A	XP_024306239.1:p.Glu787Lys
NM_032444.4:c.2359G>A MANE Select	NP_115820.2:p.Glu787Lys