Canonical Allele Identifier: CA7866027

Gene: SLX4

Linked Data

• ClinVar Variation Id: 319162
• ClinVar RCV Id: RCV000351349 ; RCV000679857 ; RCV002223834 ; RCV001820946 ; RCV003391153
• dbSNP Id: rs139287784
• ExAC: 16:3640664 C / T
• gnomAD v2: 16-3640664-C-T
• gnomAD v3: 16-3590663-C-T
• gnomAD v4: 16-3590663-C-T
• MyVariant Identifiers: chr16:g.3640664C>T (hg19) ; chr16:g.3590663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3590663C>T , CM000678.2:g.3590663C>T	GRCh38
NC_000016.9:g.3640664C>T , CM000678.1:g.3640664C>T	GRCh37
NC_000016.8:g.3580665C>T	NCBI36
NG_028123.1:g.25922G>A , LRG_503:g.25922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.2975G>A MANE Select	ENSP00000294008.3:p.Gly992Glu
ENST00000294008.3:c.2975G>A	ENSP00000294008.3:p.Gly992Glu
NM_032444.2:c.2975G>A , LRG_503t1:c.2975G>A	NP_115820.2:p.Gly992Glu
XM_011522715.1:c.2975G>A	XP_011521017.1:p.Gly992Glu
NM_032444.3:c.2975G>A	NP_115820.2:p.Gly992Glu
XM_011522715.3:c.2975G>A	XP_011521017.1:p.Gly992Glu
XM_017023775.2:c.2153G>A	XP_016879264.1:p.Gly718Glu
XM_024450471.1:c.2975G>A	XP_024306239.1:p.Gly992Glu
NM_032444.4:c.2975G>A MANE Select	NP_115820.2:p.Gly992Glu