Canonical Allele Identifier: CA7865286

Gene: SLX4

Linked Data

• ClinVar Variation Id: 241697
• ClinVar RCV Id: RCV000243677 ; RCV000440447 ; RCV001121536 ; RCV001086807
• dbSNP Id: rs111738042
• ExAC: 16:3632347 T / C
• gnomAD v2: 16-3632347-T-C
• gnomAD v3: 16-3582346-T-C
• gnomAD v4: 16-3582346-T-C
• MyVariant Identifiers: chr16:g.3632347T>C (hg19) ; chr16:g.3582346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3582346T>C , CM000678.2:g.3582346T>C	GRCh38
NC_000016.9:g.3632347T>C , CM000678.1:g.3632347T>C	GRCh37
NC_000016.8:g.3572348T>C	NCBI36
NG_028123.1:g.34239A>G , LRG_503:g.34239A>G
NG_033123.1:g.46A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.5501A>G MANE Select	ENSP00000294008.3:p.Asn1834Ser
ENST00000294008.3:c.5501A>G	ENSP00000294008.3:p.Asn1834Ser
NM_032444.2:c.5501A>G , LRG_503t1:c.5501A>G	NP_115820.2:p.Asn1834Ser
XM_011522715.1:c.5498A>G	XP_011521017.1:p.Asn1833Ser
NM_032444.3:c.5501A>G	NP_115820.2:p.Asn1834Ser
XM_011522715.3:c.5498A>G	XP_011521017.1:p.Asn1833Ser
XM_017023775.2:c.4679A>G	XP_016879264.1:p.Asn1560Ser
XM_024450471.1:c.5501A>G	XP_024306239.1:p.Asn1834Ser
NM_032444.4:c.5501A>G MANE Select	NP_115820.2:p.Asn1834Ser