Canonical Allele Identifier: CA334512

Gene: SLX4

Linked Data

• ClinVar Variation Id: 188281
• ClinVar RCV Id: RCV000168266 ; RCV001121728
• dbSNP Id: rs201582780
• ExAC: 16:3640272 A / G
• gnomAD v2: 16-3640272-A-G
• gnomAD v3: 16-3590271-A-G
• gnomAD v4: 16-3590271-A-G
• COSMIC: COSM2919704
• MyVariant Identifiers: chr16:g.3640272A>G (hg19) ; chr16:g.3590271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3590271A>G , CM000678.2:g.3590271A>G	GRCh38
NC_000016.9:g.3640272A>G , CM000678.1:g.3640272A>G	GRCh37
NC_000016.8:g.3580273A>G	NCBI36
NG_028123.1:g.26314T>C , LRG_503:g.26314T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.3367T>C MANE Select	ENSP00000294008.3:p.Ser1123Pro
ENST00000294008.3:c.3367T>C	ENSP00000294008.3:p.Ser1123Pro
NM_032444.2:c.3367T>C , LRG_503t1:c.3367T>C	NP_115820.2:p.Ser1123Pro
XM_011522715.1:c.3367T>C	XP_011521017.1:p.Ser1123Pro
NM_032444.3:c.3367T>C	NP_115820.2:p.Ser1123Pro
XM_011522715.3:c.3367T>C	XP_011521017.1:p.Ser1123Pro
XM_017023775.2:c.2545T>C	XP_016879264.1:p.Ser849Pro
XM_024450471.1:c.3367T>C	XP_024306239.1:p.Ser1123Pro
NM_032444.4:c.3367T>C MANE Select	NP_115820.2:p.Ser1123Pro