Canonical Allele Identifier: CA7866955

Gene: SLX4

Linked Data

• ClinVar Variation Id: 407911
• ClinVar RCV Id: RCV000473920 ; RCV001118600
• dbSNP Id: rs149117119
• ExAC: 16:3658880 C / T
• gnomAD v2: 16-3658880-C-T
• gnomAD v3: 16-3608879-C-T
• gnomAD v4: 16-3608879-C-T
• MyVariant Identifiers: chr16:g.3658880C>T (hg19) ; chr16:g.3608879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3608879C>T , CM000678.2:g.3608879C>T	GRCh38
NC_000016.9:g.3658880C>T , CM000678.1:g.3658880C>T	GRCh37
NC_000016.8:g.3598881C>T	NCBI36
NG_028123.1:g.7706G>A , LRG_503:g.7706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697859.1:n.708G>A
ENST00000294008.4:c.86G>A MANE Select	ENSP00000294008.3:p.Arg29His
ENST00000294008.3:c.86G>A	ENSP00000294008.3:p.Arg29His
ENST00000466154.5:n.381G>A
ENST00000486524.1:n.714G>A
NM_032444.2:c.86G>A , LRG_503t1:c.86G>A	NP_115820.2:p.Arg29His
XM_011522715.1:c.86G>A	XP_011521017.1:p.Arg29His
NM_032444.3:c.86G>A	NP_115820.2:p.Arg29His
XM_011522715.3:c.86G>A	XP_011521017.1:p.Arg29His
XM_024450471.1:c.86G>A	XP_024306239.1:p.Arg29His
NM_032444.4:c.86G>A MANE Select	NP_115820.2:p.Arg29His