Canonical Allele Identifier: CA7865592

Gene: SLX4

Linked Data

• ClinVar Variation Id: 456327
• ClinVar RCV Id: RCV000540214 ; RCV000585421 ; RCV001121625
• dbSNP Id: rs147315419
• ExAC: 16:3639049 C / T
• gnomAD v2: 16-3639049-C-T
• gnomAD v3: 16-3589048-C-T
• gnomAD v4: 16-3589048-C-T
• MyVariant Identifiers: chr16:g.3639049C>T (hg19) ; chr16:g.3589048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3589048C>T , CM000678.2:g.3589048C>T	GRCh38
NC_000016.9:g.3639049C>T , CM000678.1:g.3639049C>T	GRCh37
NC_000016.8:g.3579050C>T	NCBI36
NG_028123.1:g.27537G>A , LRG_503:g.27537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.4590G>A MANE Select	ENSP00000294008.3:p.Met1530Ile
ENST00000294008.3:c.4590G>A	ENSP00000294008.3:p.Met1530Ile
NM_032444.2:c.4590G>A , LRG_503t1:c.4590G>A	NP_115820.2:p.Met1530Ile
XM_011522715.1:c.4590G>A	XP_011521017.1:p.Met1530Ile
NM_032444.3:c.4590G>A	NP_115820.2:p.Met1530Ile
XM_011522715.3:c.4590G>A	XP_011521017.1:p.Met1530Ile
XM_017023775.2:c.3768G>A	XP_016879264.1:p.Met1256Ile
XM_024450471.1:c.4590G>A	XP_024306239.1:p.Met1530Ile
NM_032444.4:c.4590G>A MANE Select	NP_115820.2:p.Met1530Ile