Canonical Allele Identifier: CA338775

Gene: SLX4

Linked Data

• ClinVar Variation Id: 215951
• ClinVar RCV Id: RCV000199665 ; RCV001115435 ; RCV001579421 ; RCV001818479
• dbSNP Id: rs144326379
• ExAC: 16:3658627 A / G
• gnomAD v2: 16-3658627-A-G
• gnomAD v3: 16-3608626-A-G
• gnomAD v4: 16-3608626-A-G
• MyVariant Identifiers: chr16:g.3658627A>G (hg19) ; chr16:g.3608626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3608626A>G , CM000678.2:g.3608626A>G	GRCh38
NC_000016.9:g.3658627A>G , CM000678.1:g.3658627A>G	GRCh37
NC_000016.8:g.3598628A>G	NCBI36
NG_028123.1:g.7959T>C , LRG_503:g.7959T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697859.1:n.961T>C
ENST00000294008.4:c.339T>C MANE Select	ENSP00000294008.3:p.Ser113=
ENST00000294008.3:c.339T>C	ENSP00000294008.3:p.Ser113=
ENST00000466154.5:n.634T>C
ENST00000486524.1:n.967T>C
NM_032444.2:c.339T>C , LRG_503t1:c.339T>C	NP_115820.2:p.Ser113=
XM_011522715.1:c.339T>C	XP_011521017.1:p.Ser113=
NM_032444.3:c.339T>C	NP_115820.2:p.Ser113=
XM_011522715.3:c.339T>C	XP_011521017.1:p.Ser113=
XM_024450471.1:c.339T>C	XP_024306239.1:p.Ser113=
NM_032444.4:c.339T>C MANE Select	NP_115820.2:p.Ser113=