Canonical Allele Identifier: CA7865745

Gene: SLX4

Linked Data

• ClinVar Variation Id: 241686
• ClinVar RCV Id: RCV000232675 ; RCV001094330 ; RCV001556641 ; RCV001820768
• dbSNP Id: rs142205392
• ExAC: 16:3639582 G / T
• gnomAD v2: 16-3639582-G-T
• gnomAD v3: 16-3589581-G-T
• gnomAD v4: 16-3589581-G-T
• MyVariant Identifiers: chr16:g.3639582G>T (hg19) ; chr16:g.3589581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3589581G>T , CM000678.2:g.3589581G>T	GRCh38
NC_000016.9:g.3639582G>T , CM000678.1:g.3639582G>T	GRCh37
NC_000016.8:g.3579583G>T	NCBI36
NG_028123.1:g.27004C>A , LRG_503:g.27004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.4057C>A MANE Select	ENSP00000294008.3:p.His1353Asn
ENST00000294008.3:c.4057C>A	ENSP00000294008.3:p.His1353Asn
NM_032444.2:c.4057C>A , LRG_503t1:c.4057C>A	NP_115820.2:p.His1353Asn
XM_011522715.1:c.4057C>A	XP_011521017.1:p.His1353Asn
NM_032444.3:c.4057C>A	NP_115820.2:p.His1353Asn
XM_011522715.3:c.4057C>A	XP_011521017.1:p.His1353Asn
XM_017023775.2:c.3235C>A	XP_016879264.1:p.His1079Asn
XM_024450471.1:c.4057C>A	XP_024306239.1:p.His1353Asn
NM_032444.4:c.4057C>A MANE Select	NP_115820.2:p.His1353Asn