Canonical Allele Identifier: CA7865760

Gene: SLX4

Linked Data

• ClinVar Variation Id: 436779
• ClinVar RCV Id: RCV000502403 ; RCV000862104 ; RCV001118202
• dbSNP Id: rs140051968
• ExAC: 16:3639615 T / C
• gnomAD v2: 16-3639615-T-C
• gnomAD v3: 16-3589614-T-C
• gnomAD v4: 16-3589614-T-C
• MyVariant Identifiers: chr16:g.3639615T>C (hg19) ; chr16:g.3589614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3589614T>C , CM000678.2:g.3589614T>C	GRCh38
NC_000016.9:g.3639615T>C , CM000678.1:g.3639615T>C	GRCh37
NC_000016.8:g.3579616T>C	NCBI36
NG_028123.1:g.26971A>G , LRG_503:g.26971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.4024A>G MANE Select	ENSP00000294008.3:p.Ser1342Gly
ENST00000294008.3:c.4024A>G	ENSP00000294008.3:p.Ser1342Gly
NM_032444.2:c.4024A>G , LRG_503t1:c.4024A>G	NP_115820.2:p.Ser1342Gly
XM_011522715.1:c.4024A>G	XP_011521017.1:p.Ser1342Gly
NM_032444.3:c.4024A>G	NP_115820.2:p.Ser1342Gly
XM_011522715.3:c.4024A>G	XP_011521017.1:p.Ser1342Gly
XM_017023775.2:c.3202A>G	XP_016879264.1:p.Ser1068Gly
XM_024450471.1:c.4024A>G	XP_024306239.1:p.Ser1342Gly
NM_032444.4:c.4024A>G MANE Select	NP_115820.2:p.Ser1342Gly