Canonical Allele Identifier: CA7866291

Gene: SLX4

Linked Data

• ClinVar Variation Id: 414707
• ClinVar RCV Id: RCV000468690 ; RCV001821332 ; RCV002489115 ; RCV003441891 ; RCV003915301
• dbSNP Id: rs73505420
• ExAC: 16:3644511 C / G
• gnomAD v2: 16-3644511-C-G
• gnomAD v3: 16-3594510-C-G
• gnomAD v4: 16-3594510-C-G
• MyVariant Identifiers: chr16:g.3644511C>G (hg19) ; chr16:g.3594510C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3594510C>G , CM000678.2:g.3594510C>G	GRCh38
NC_000016.9:g.3644511C>G , CM000678.1:g.3644511C>G	GRCh37
NC_000016.8:g.3584512C>G	NCBI36
NG_028123.1:g.22075G>C , LRG_503:g.22075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.2103G>C MANE Select	ENSP00000294008.3:p.Glu701Asp
ENST00000294008.3:c.2103G>C	ENSP00000294008.3:p.Glu701Asp
NM_032444.2:c.2103G>C , LRG_503t1:c.2103G>C	NP_115820.2:p.Glu701Asp
XM_011522715.1:c.2103G>C	XP_011521017.1:p.Glu701Asp
NM_032444.3:c.2103G>C	NP_115820.2:p.Glu701Asp
XM_011522715.3:c.2103G>C	XP_011521017.1:p.Glu701Asp
XM_017023775.2:c.1281G>C	XP_016879264.1:p.Glu427Asp
XM_024450471.1:c.2103G>C	XP_024306239.1:p.Glu701Asp
NM_032444.4:c.2103G>C MANE Select	NP_115820.2:p.Glu701Asp