Canonical Allele Identifier: CA10611223

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297363
• ClinVar RCV Id: RCV000284437 ; RCV000376484
• dbSNP Id: rs886046334
• gnomAD v3: 1-42926025-T-C
• gnomAD v4: 1-42926025-T-C
• MyVariant Identifiers: chr1:g.43391696T>C (hg19) ; chr1:g.42926025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926025T>C , CM000663.2:g.42926025T>C	GRCh38
NC_000001.10:g.43391696T>C , CM000663.1:g.43391696T>C	GRCh37
NC_000001.9:g.43164283T>C	NCBI36
NG_008232.1:g.38152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*1016A>G MANE Select	ENSP00000416293.2:n.*1016A>G
ENST00000426263.7:c.*1016A>G	ENSP00000416293.2:n.*1016A>G
NM_006516.2:c.*1016A>G	NP_006507.2:n.*1016A>G
NM_006516.3:c.*1016A>G	NP_006507.2:n.*1016A>G
NM_006516.4:c.*1016A>G MANE Select	NP_006507.2:n.*1016A>G