Canonical Allele Identifier: CA10609967

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297376
• ClinVar RCV Id: RCV000278094 ; RCV000398147
• dbSNP Id: rs886046340
• gnomAD v2: 1-43392390-A-C
• gnomAD v3: 1-42926719-A-C
• gnomAD v4: 1-42926719-A-C
• MyVariant Identifiers: chr1:g.43392390A>C (hg19) ; chr1:g.42926719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42926719A>C , CM000663.2:g.42926719A>C	GRCh38
NC_000001.10:g.43392390A>C , CM000663.1:g.43392390A>C	GRCh37
NC_000001.9:g.43164977A>C	NCBI36
NG_008232.1:g.37458T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*322T>G MANE Select	ENSP00000416293.2:n.*322T>G
ENST00000674545.1:n.2418T>G
ENST00000674765.1:c.*88T>G	ENSP00000501811.1:n.*88T>G
ENST00000675112.1:n.2102T>G
ENST00000676254.1:n.2250T>G
ENST00000426263.7:c.*322T>G	ENSP00000416293.2:n.*322T>G
ENST00000630287.2:c.*1116T>G	ENSP00000486694.1:n.*1116T>G
NM_006516.2:c.*322T>G	NP_006507.2:n.*322T>G
NM_006516.3:c.*322T>G	NP_006507.2:n.*322T>G
NM_006516.4:c.*322T>G MANE Select	NP_006507.2:n.*322T>G