Canonical Allele Identifier: CA10611252

Gene: SLC2A1 SLC2A1-DT

Linked Data

• ClinVar Variation Id: 297396
• ClinVar RCV Id: RCV000289450 ; RCV000344410
• dbSNP Id: rs886046347
• gnomAD v2: 1-43424832-C-G
• gnomAD v3: 1-42959161-C-G
• gnomAD v4: 1-42959161-C-G
• MyVariant Identifiers: chr1:g.43424832C>G (hg19) ; chr1:g.42959161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42959161C>G , CM000663.2:g.42959161C>G	GRCh38
NC_000001.10:g.43424832C>G , CM000663.1:g.43424832C>G	GRCh37
NC_000001.9:g.43197419C>G	NCBI36
NG_008232.1:g.5016G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.7:c.-510G>C (SLC2A1)	ENSP00000416293.2:n.-510G>C
NM_006516.2:c.-510G>C (SLC2A1)	NP_006507.2:n.-510G>C
NR_033967.1:n.113C>G (SLC2A1-DT)