Canonical Allele Identifier: CA7866881

Gene: SLX4

Linked Data

• ClinVar Variation Id: 241689
• ClinVar RCV Id: RCV000233422 ; RCV000764068 ; RCV000989506 ; RCV001570886 ; RCV001005038 ; RCV001194829
• dbSNP Id: rs137976282
• ExAC: 16:3658545 C / A
• gnomAD v2: 16-3658545-C-A
• gnomAD v3: 16-3608544-C-A
• gnomAD v4: 16-3608544-C-A
• MyVariant Identifiers: chr16:g.3658545C>A (hg19) ; chr16:g.3608544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3608544C>A , CM000678.2:g.3608544C>A	GRCh38
NC_000016.9:g.3658545C>A , CM000678.1:g.3658545C>A	GRCh37
NC_000016.8:g.3598546C>A	NCBI36
NG_028123.1:g.8041G>T , LRG_503:g.8041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697859.1:n.1043G>T
ENST00000294008.4:c.421G>T MANE Select	ENSP00000294008.3:p.Gly141Trp
ENST00000294008.3:c.421G>T	ENSP00000294008.3:p.Gly141Trp
ENST00000466154.5:n.716G>T
ENST00000486524.1:n.1049G>T
NM_032444.2:c.421G>T , LRG_503t1:c.421G>T	NP_115820.2:p.Gly141Trp
XM_011522715.1:c.421G>T	XP_011521017.1:p.Gly141Trp
NM_032444.3:c.421G>T	NP_115820.2:p.Gly141Trp
XM_011522715.3:c.421G>T	XP_011521017.1:p.Gly141Trp
XM_024450471.1:c.421G>T	XP_024306239.1:p.Gly141Trp
NM_032444.4:c.421G>T MANE Select	NP_115820.2:p.Gly141Trp