Canonical Allele Identifier: CA7866772

Gene: SLX4

Linked Data

• ClinVar Variation Id: 319184
• ClinVar RCV Id: RCV000395367 ; RCV000503857 ; RCV000858688 ; RCV001094351
• dbSNP Id: rs148547201
• ExAC: 16:3656493 C / T
• gnomAD v2: 16-3656493-C-T
• gnomAD v3: 16-3606492-C-T
• gnomAD v4: 16-3606492-C-T
• MyVariant Identifiers: chr16:g.3656493C>T (hg19) ; chr16:g.3606492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3606492C>T , CM000678.2:g.3606492C>T	GRCh38
NC_000016.9:g.3656493C>T , CM000678.1:g.3656493C>T	GRCh37
NC_000016.8:g.3596494C>T	NCBI36
NG_028123.1:g.10093G>A , LRG_503:g.10093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697858.1:n.83G>A
ENST00000294008.4:c.742G>A MANE Select	ENSP00000294008.3:p.Glu248Lys
ENST00000294008.3:c.742G>A	ENSP00000294008.3:p.Glu248Lys
ENST00000466154.5:n.1037G>A
ENST00000486524.1:n.1370G>A
NM_032444.2:c.742G>A , LRG_503t1:c.742G>A	NP_115820.2:p.Glu248Lys
XM_011522715.1:c.742G>A	XP_011521017.1:p.Glu248Lys
NM_032444.3:c.742G>A	NP_115820.2:p.Glu248Lys
XM_011522715.3:c.742G>A	XP_011521017.1:p.Glu248Lys
XM_024450471.1:c.742G>A	XP_024306239.1:p.Glu248Lys
NM_032444.4:c.742G>A MANE Select	NP_115820.2:p.Glu248Lys