Canonical Allele Identifier: CA7866204

Gene: SLX4

Linked Data

• ClinVar Variation Id: 407899
• ClinVar RCV Id: RCV000463301 ; RCV001121834 ; RCV001796060 ; RCV001821253 ; RCV003902645
• dbSNP Id: rs150712805
• ExAC: 16:3642722 C / G
• gnomAD v2: 16-3642722-C-G
• gnomAD v3: 16-3592721-C-G
• gnomAD v4: 16-3592721-C-G
• COSMIC: COSM3370429
• MyVariant Identifiers: chr16:g.3642722C>G (hg19) ; chr16:g.3592721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3592721C>G , CM000678.2:g.3592721C>G	GRCh38
NC_000016.9:g.3642722C>G , CM000678.1:g.3642722C>G	GRCh37
NC_000016.8:g.3582723C>G	NCBI36
NG_028123.1:g.23864G>C , LRG_503:g.23864G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.2305G>C MANE Select	ENSP00000294008.3:p.Glu769Gln
ENST00000294008.3:c.2305G>C	ENSP00000294008.3:p.Glu769Gln
NM_032444.2:c.2305G>C , LRG_503t1:c.2305G>C	NP_115820.2:p.Glu769Gln
XM_011522715.1:c.2305G>C	XP_011521017.1:p.Glu769Gln
NM_032444.3:c.2305G>C	NP_115820.2:p.Glu769Gln
XM_011522715.3:c.2305G>C	XP_011521017.1:p.Glu769Gln
XM_017023775.2:c.1483G>C	XP_016879264.1:p.Glu495Gln
XM_024450471.1:c.2305G>C	XP_024306239.1:p.Glu769Gln
NM_032444.4:c.2305G>C MANE Select	NP_115820.2:p.Glu769Gln