Canonical Allele Identifier: CA7865357

Gene: SLX4

Linked Data

• ClinVar Variation Id: 414716
• ClinVar RCV Id: RCV000470302 ; RCV001116648
• dbSNP Id: rs144776083
• ExAC: 16:3632589 G / A
• gnomAD v2: 16-3632589-G-A
• gnomAD v3: 16-3582588-G-A
• gnomAD v4: 16-3582588-G-A
• MyVariant Identifiers: chr16:g.3632589G>A (hg19) ; chr16:g.3582588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3582588G>A , CM000678.2:g.3582588G>A	GRCh38
NC_000016.9:g.3632589G>A , CM000678.1:g.3632589G>A	GRCh37
NC_000016.8:g.3572590G>A	NCBI36
NG_028123.1:g.33997C>T , LRG_503:g.33997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.5259C>T MANE Select	ENSP00000294008.3:p.Asp1753=
ENST00000294008.3:c.5259C>T	ENSP00000294008.3:p.Asp1753=
NM_032444.2:c.5259C>T , LRG_503t1:c.5259C>T	NP_115820.2:p.Asp1753=
XM_011522715.1:c.5256C>T	XP_011521017.1:p.Asp1752=
NM_032444.3:c.5259C>T	NP_115820.2:p.Asp1753=
XM_011522715.3:c.5256C>T	XP_011521017.1:p.Asp1752=
XM_017023775.2:c.4437C>T	XP_016879264.1:p.Asp1479=
XM_024450471.1:c.5259C>T	XP_024306239.1:p.Asp1753=
NM_032444.4:c.5259C>T MANE Select	NP_115820.2:p.Asp1753=