Canonical Allele Identifier: CA10611090

Gene: SLC2A1 SLC2A1-DT

Linked Data

• ClinVar Variation Id: 297395
• ClinVar RCV Id: RCV000347903 ; RCV000396103 ; RCV001653459 ; RCV003445905 ; RCV003445907 ; RCV003445908 ; RCV003445909 ; RCV003445906
• dbSNP Id: rs3754226
• gnomAD v2: 1-43424812-C-G
• gnomAD v3: 1-42959141-C-G
• gnomAD v4: 1-42959141-C-G
• MyVariant Identifiers: chr1:g.43424812C>G (hg19) ; chr1:g.42959141C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42959141C>G , CM000663.2:g.42959141C>G	GRCh38
NC_000001.10:g.43424812C>G , CM000663.1:g.43424812C>G	GRCh37
NC_000001.9:g.43197399C>G	NCBI36
NG_008232.1:g.5036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.7:c.-490G>C (SLC2A1)	ENSP00000416293.2:n.-490G>C
NM_006516.2:c.-490G>C (SLC2A1)	NP_006507.2:n.-490G>C
NR_033967.1:n.93C>G (SLC2A1-DT)