Canonical Allele Identifier: CA7866469

Gene: SLX4

Linked Data

• ClinVar Variation Id: 414709
• ClinVar RCV Id: RCV000480800 ; RCV001085760 ; RCV000767083 ; RCV000989501 ; RCV001731703
• dbSNP Id: rs150547487
• ExAC: 16:3647426 T / C
• gnomAD v2: 16-3647426-T-C
• gnomAD v3: 16-3597425-T-C
• gnomAD v4: 16-3597425-T-C
• MyVariant Identifiers: chr16:g.3647426T>C (hg19) ; chr16:g.3597425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3597425T>C , CM000678.2:g.3597425T>C	GRCh38
NC_000016.9:g.3647426T>C , CM000678.1:g.3647426T>C	GRCh37
NC_000016.8:g.3587427T>C	NCBI36
NG_028123.1:g.19160A>G , LRG_503:g.19160A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.1637A>G MANE Select	ENSP00000294008.3:p.Tyr546Cys
ENST00000294008.3:c.1637A>G	ENSP00000294008.3:p.Tyr546Cys
ENST00000466154.5:n.2858A>G
NM_032444.2:c.1637A>G , LRG_503t1:c.1637A>G	NP_115820.2:p.Tyr546Cys
XM_011522715.1:c.1637A>G	XP_011521017.1:p.Tyr546Cys
NM_032444.3:c.1637A>G	NP_115820.2:p.Tyr546Cys
XM_011522715.3:c.1637A>G	XP_011521017.1:p.Tyr546Cys
XM_017023775.2:c.815A>G	XP_016879264.1:p.Tyr272Cys
XM_024450471.1:c.1637A>G	XP_024306239.1:p.Tyr546Cys
NM_032444.4:c.1637A>G MANE Select	NP_115820.2:p.Tyr546Cys