Canonical Allele Identifier: CA2857031

Gene: SLC2A9

Linked Data

• ClinVar Variation Id: 906925
• ClinVar RCV Id: RCV001156411 ; RCV001210271
• dbSNP Id: rs763461427
• ExAC: 4:9922074 C / T
• gnomAD v2: 4-9922074-C-T
• gnomAD v3: 4-9920450-C-T
• gnomAD v4: 4-9920450-C-T
• MyVariant Identifiers: chr4:g.9922074C>T (hg19) ; chr4:g.9920450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.9920450C>T , CM000666.2:g.9920450C>T	GRCh38
NC_000004.11:g.9922074C>T , CM000666.1:g.9922074C>T	GRCh37
NC_000004.10:g.9531172C>T	NCBI36
NG_011540.1:g.124799G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264784.8:c.937G>A MANE Select	ENSP00000264784.3:p.Val313Ile
ENST00000264784.7:c.937G>A	ENSP00000264784.3:p.Val313Ile
ENST00000309065.7:c.850G>A	ENSP00000311383.3:p.Val284Ile
ENST00000505104.5:n.971G>A
ENST00000506583.5:c.850G>A	ENSP00000422209.1:p.Val284Ile
NM_001001290.1:c.850G>A	NP_001001290.1:p.Val284Ile
NM_020041.2:c.937G>A	NP_064425.2:p.Val313Ile
XM_006713968.2:c.937G>A	XP_006714031.1:p.Val313Ile
XM_006713969.2:c.850G>A	XP_006714032.1:p.Val284Ile
XM_011513856.1:c.937G>A	XP_011512158.1:p.Val313Ile
XM_011513857.1:c.850G>A	XP_011512159.1:p.Val284Ile
XM_011513858.1:c.850G>A	XP_011512160.1:p.Val284Ile
XM_011513859.1:c.937G>A	XP_011512161.1:p.Val313Ile
XM_011513860.1:c.937G>A	XP_011512162.1:p.Val313Ile
XM_011513861.1:c.937G>A	XP_011512163.1:p.Val313Ile
XM_011513862.1:c.541G>A	XP_011512164.1:p.Val181Ile
XM_011513863.1:c.541G>A	XP_011512165.1:p.Val181Ile
XM_011513864.1:c.529G>A	XP_011512166.1:p.Val177Ile
XM_011513865.1:c.937G>A	XP_011512167.1:p.Val313Ile
XM_011513866.1:c.937G>A	XP_011512168.1:p.Val313Ile
XM_011513867.1:c.379G>A	XP_011512169.1:p.Val127Ile
XM_011513868.1:c.937G>A	XP_011512170.1:p.Val313Ile
XR_925341.1:n.1033G>A
XM_006713968.4:c.937G>A	XP_006714031.1:p.Val313Ile
XM_011513856.3:c.937G>A	XP_011512158.1:p.Val313Ile
XM_011513859.3:c.937G>A	XP_011512161.1:p.Val313Ile
XM_011513860.3:c.937G>A	XP_011512162.1:p.Val313Ile
XM_011513861.3:c.937G>A	XP_011512163.1:p.Val313Ile
XM_011513862.3:c.541G>A	XP_011512164.1:p.Val181Ile
XM_011513864.2:c.529G>A	XP_011512166.1:p.Val177Ile
XM_011513865.2:c.937G>A	XP_011512167.1:p.Val313Ile
XM_011513866.2:c.937G>A	XP_011512168.1:p.Val313Ile
XM_011513867.3:c.379G>A	XP_011512169.1:p.Val127Ile
XM_011513868.2:c.937G>A	XP_011512170.1:p.Val313Ile
XM_017008457.2:c.937G>A	XP_016863946.1:p.Val313Ile
XM_017008458.2:c.937G>A	XP_016863947.1:p.Val313Ile
XM_017008459.1:c.475G>A	XP_016863948.1:p.Val159Ile
XM_017008460.2:c.541G>A	XP_016863949.1:p.Val181Ile
XM_024454150.1:c.937G>A	XP_024309918.1:p.Val313Ile
XM_024454151.1:c.550G>A	XP_024309919.1:p.Val184Ile
XM_024454152.1:c.937G>A	XP_024309920.1:p.Val313Ile
XM_024454153.1:c.937G>A	XP_024309921.1:p.Val313Ile
XR_001741290.1:n.1110G>A
XR_001741291.1:n.1110G>A
XR_925341.3:n.1114G>A
NM_020041.3:c.937G>A MANE Select	NP_064425.2:p.Val313Ile
NM_001001290.2:c.850G>A	NP_001001290.1:p.Val284Ile