Canonical Allele Identifier: CA11900194
Gene: SLC2A9 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.10054752T>C
GRCh37 chr4:g.10056376T>C
gnomAD v2:
4:10056376 T / C
gnomAD v3:
4:10054752 T / C
gnomAD v4:
chr4-10054752-T-C
Joint Max Group AF 0.95454661 (EAS)
Genomes Max Group AF 0.95454661 (EAS)
Exomes Max Group AF 0.3353727 (NFE)
dbSNP:
7671266
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.10054752T>C , CM000666.2:g.10054752T>C GRCh38
NC_000004.11:g.10056376T>C , CM000666.1:g.10056376T>C GRCh37
NC_000004.10:g.9665474T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506583.5:c.-176+81A>G ENSP00000422209.1:n.-176+81A>G
ENST00000513129.1:c.-41+81A>G ENSP00000426800.1:n.-41+81A>G
Search 100 bp 5'
Search 100 bp 3'