Canonical Allele Identifier: CA7866879

Gene: SLX4

Linked Data

• ClinVar Variation Id: 423992
• ClinVar RCV Id: RCV000478235 ; RCV000766462 ; RCV001087098 ; RCV001120334 ; RCV003902732
• dbSNP Id: rs77306735
• ExAC: 16:3658544 C / A
• gnomAD v2: 16-3658544-C-A
• gnomAD v3: 16-3608543-C-A
• gnomAD v4: 16-3608543-C-A
• MyVariant Identifiers: chr16:g.3658544C>A (hg19) ; chr16:g.3608543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3608543C>A , CM000678.2:g.3608543C>A	GRCh38
NC_000016.9:g.3658544C>A , CM000678.1:g.3658544C>A	GRCh37
NC_000016.8:g.3598545C>A	NCBI36
NG_028123.1:g.8042G>T , LRG_503:g.8042G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697859.1:n.1044G>T
ENST00000294008.4:c.422G>T MANE Select	ENSP00000294008.3:p.Gly141Val
ENST00000294008.3:c.422G>T	ENSP00000294008.3:p.Gly141Val
ENST00000466154.5:n.717G>T
ENST00000486524.1:n.1050G>T
NM_032444.2:c.422G>T , LRG_503t1:c.422G>T	NP_115820.2:p.Gly141Val
XM_011522715.1:c.422G>T	XP_011521017.1:p.Gly141Val
NM_032444.3:c.422G>T	NP_115820.2:p.Gly141Val
XM_011522715.3:c.422G>T	XP_011521017.1:p.Gly141Val
XM_024450471.1:c.422G>T	XP_024306239.1:p.Gly141Val
NM_032444.4:c.422G>T MANE Select	NP_115820.2:p.Gly141Val