Canonical Allele Identifier: CA10610244

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297351
• ClinVar RCV Id: RCV000328301 ; RCV000387484
• dbSNP Id: rs189700252
• gnomAD v2: 1-43391124-C-T
• gnomAD v3: 1-42925453-C-T
• gnomAD v4: 1-42925453-C-T
• MyVariant Identifiers: chr1:g.43391124C>T (hg19) ; chr1:g.42925453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42925453C>T , CM000663.2:g.42925453C>T	GRCh38
NC_000001.10:g.43391124C>T , CM000663.1:g.43391124C>T	GRCh37
NC_000001.9:g.43163711C>T	NCBI36
NG_008232.1:g.38724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*1588G>A MANE Select	ENSP00000416293.2:n.*1588G>A
ENST00000426263.7:c.*1588G>A	ENSP00000416293.2:n.*1588G>A
NM_006516.2:c.*1588G>A	NP_006507.2:n.*1588G>A
NM_006516.3:c.*1588G>A	NP_006507.2:n.*1588G>A
NM_006516.4:c.*1588G>A MANE Select	NP_006507.2:n.*1588G>A