Canonical Allele Identifier: CA10610254

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297364
• ClinVar RCV Id: RCV000341305 ; RCV000379551
• dbSNP Id: rs185891628
• gnomAD v2: 1-43391741-C-T
• gnomAD v3: 1-42926070-C-T
• gnomAD v4: 1-42926070-C-T
• MyVariant Identifiers: chr1:g.43391741C>T (hg19) ; chr1:g.42926070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926070C>T , CM000663.2:g.42926070C>T	GRCh38
NC_000001.10:g.43391741C>T , CM000663.1:g.43391741C>T	GRCh37
NC_000001.9:g.43164328C>T	NCBI36
NG_008232.1:g.38107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*971G>A MANE Select	ENSP00000416293.2:n.*971G>A
ENST00000426263.7:c.*971G>A	ENSP00000416293.2:n.*971G>A
NM_006516.2:c.*971G>A	NP_006507.2:n.*971G>A
NM_006516.3:c.*971G>A	NP_006507.2:n.*971G>A
NM_006516.4:c.*971G>A MANE Select	NP_006507.2:n.*971G>A