Canonical Allele Identifier: CA7866207

Gene: SLX4

Linked Data

• ClinVar Variation Id: 456299
• ClinVar RCV Id: RCV000558751 ; RCV001821488 ; RCV003915485 ; RCV003156249
• dbSNP Id: rs151105762
• ExAC: 16:3642737 G / C
• gnomAD v2: 16-3642737-G-C
• gnomAD v3: 16-3592736-G-C
• gnomAD v4: 16-3592736-G-C
• MyVariant Identifiers: chr16:g.3642737G>C (hg19) ; chr16:g.3592736G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3592736G>C , CM000678.2:g.3592736G>C	GRCh38
NC_000016.9:g.3642737G>C , CM000678.1:g.3642737G>C	GRCh37
NC_000016.8:g.3582738G>C	NCBI36
NG_028123.1:g.23849C>G , LRG_503:g.23849C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.2290C>G MANE Select	ENSP00000294008.3:p.Pro764Ala
ENST00000294008.3:c.2290C>G	ENSP00000294008.3:p.Pro764Ala
NM_032444.2:c.2290C>G , LRG_503t1:c.2290C>G	NP_115820.2:p.Pro764Ala
XM_011522715.1:c.2290C>G	XP_011521017.1:p.Pro764Ala
NM_032444.3:c.2290C>G	NP_115820.2:p.Pro764Ala
XM_011522715.3:c.2290C>G	XP_011521017.1:p.Pro764Ala
XM_017023775.2:c.1468C>G	XP_016879264.1:p.Pro490Ala
XM_024450471.1:c.2290C>G	XP_024306239.1:p.Pro764Ala
NM_032444.4:c.2290C>G MANE Select	NP_115820.2:p.Pro764Ala