Canonical Allele Identifier: CA7865871

Gene: SLX4

Linked Data

• ClinVar Variation Id: 456313
• ClinVar RCV Id: RCV000552069 ; RCV001572565 ; RCV001293953 ; RCV003151083 ; RCV003960260
• dbSNP Id: rs142008398
• ExAC: 16:3639963 G / A
• gnomAD v2: 16-3639963-G-A
• gnomAD v3: 16-3589962-G-A
• gnomAD v4: 16-3589962-G-A
• COSMIC: COSM970481
• MyVariant Identifiers: chr16:g.3639963G>A (hg19) ; chr16:g.3589962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3589962G>A , CM000678.2:g.3589962G>A	GRCh38
NC_000016.9:g.3639963G>A , CM000678.1:g.3639963G>A	GRCh37
NC_000016.8:g.3579964G>A	NCBI36
NG_028123.1:g.26623C>T , LRG_503:g.26623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.3676C>T MANE Select	ENSP00000294008.3:p.Arg1226Trp
ENST00000294008.3:c.3676C>T	ENSP00000294008.3:p.Arg1226Trp
NM_032444.2:c.3676C>T , LRG_503t1:c.3676C>T	NP_115820.2:p.Arg1226Trp
XM_011522715.1:c.3676C>T	XP_011521017.1:p.Arg1226Trp
NM_032444.3:c.3676C>T	NP_115820.2:p.Arg1226Trp
XM_011522715.3:c.3676C>T	XP_011521017.1:p.Arg1226Trp
XM_017023775.2:c.2854C>T	XP_016879264.1:p.Arg952Trp
XM_024450471.1:c.3676C>T	XP_024306239.1:p.Arg1226Trp
NM_032444.4:c.3676C>T MANE Select	NP_115820.2:p.Arg1226Trp