Canonical Allele Identifier: CA7866863

Gene: SLX4

Linked Data

• ClinVar Variation Id: 407933
• ClinVar RCV Id: RCV000468758 ; RCV000501642 ; RCV000989505
• dbSNP Id: rs144614070
• ExAC: 16:3658499 G / T
• gnomAD v2: 16-3658499-G-T
• gnomAD v3: 16-3608498-G-T
• gnomAD v4: 16-3608498-G-T
• MyVariant Identifiers: chr16:g.3658499G>T (hg19) ; chr16:g.3608498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3608498G>T , CM000678.2:g.3608498G>T	GRCh38
NC_000016.9:g.3658499G>T , CM000678.1:g.3658499G>T	GRCh37
NC_000016.8:g.3598500G>T	NCBI36
NG_028123.1:g.8087C>A , LRG_503:g.8087C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697859.1:n.1089C>A
ENST00000294008.4:c.467C>A MANE Select	ENSP00000294008.3:p.Thr156Lys
ENST00000294008.3:c.467C>A	ENSP00000294008.3:p.Thr156Lys
ENST00000466154.5:n.762C>A
ENST00000486524.1:n.1095C>A
NM_032444.2:c.467C>A , LRG_503t1:c.467C>A	NP_115820.2:p.Thr156Lys
XM_011522715.1:c.467C>A	XP_011521017.1:p.Thr156Lys
NM_032444.3:c.467C>A	NP_115820.2:p.Thr156Lys
XM_011522715.3:c.467C>A	XP_011521017.1:p.Thr156Lys
XM_024450471.1:c.467C>A	XP_024306239.1:p.Thr156Lys
NM_032444.4:c.467C>A MANE Select	NP_115820.2:p.Thr156Lys