Canonical Allele Identifier: CA7865928

Gene: SLX4

Linked Data

• ClinVar Variation Id: 436780
• ClinVar RCV Id: RCV000504455 ; RCV001857166 ; RCV004023404
• dbSNP Id: rs766081510
• ExAC: 16:3640269 T / C
• gnomAD v2: 16-3640269-T-C
• gnomAD v3: 16-3590268-T-C
• gnomAD v4: 16-3590268-T-C
• MyVariant Identifiers: chr16:g.3640269T>C (hg19) ; chr16:g.3590268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3590268T>C , CM000678.2:g.3590268T>C	GRCh38
NC_000016.9:g.3640269T>C , CM000678.1:g.3640269T>C	GRCh37
NC_000016.8:g.3580270T>C	NCBI36
NG_028123.1:g.26317A>G , LRG_503:g.26317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.3370A>G MANE Select	ENSP00000294008.3:p.Ile1124Val
ENST00000294008.3:c.3370A>G	ENSP00000294008.3:p.Ile1124Val
NM_032444.2:c.3370A>G , LRG_503t1:c.3370A>G	NP_115820.2:p.Ile1124Val
XM_011522715.1:c.3370A>G	XP_011521017.1:p.Ile1124Val
NM_032444.3:c.3370A>G	NP_115820.2:p.Ile1124Val
XM_011522715.3:c.3370A>G	XP_011521017.1:p.Ile1124Val
XM_017023775.2:c.2548A>G	XP_016879264.1:p.Ile850Val
XM_024450471.1:c.3370A>G	XP_024306239.1:p.Ile1124Val
NM_032444.4:c.3370A>G MANE Select	NP_115820.2:p.Ile1124Val