Canonical Allele Identifier: CA10609984

Gene: SLC2A1 SLC2A1-DT

Linked Data

• ClinVar Variation Id: 297393
• ClinVar RCV Id: RCV000278436 ; RCV000333448 ; RCV001653458
• dbSNP Id: rs867977523
• gnomAD v2: 1-43424746-G-C
• gnomAD v3: 1-42959075-G-C
• gnomAD v4: 1-42959075-G-C
• MyVariant Identifiers: chr1:g.43424746G>C (hg19) ; chr1:g.42959075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42959075G>C , CM000663.2:g.42959075G>C	GRCh38
NC_000001.10:g.43424746G>C , CM000663.1:g.43424746G>C	GRCh37
NC_000001.9:g.43197333G>C	NCBI36
NG_008232.1:g.5102C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.7:c.-424C>G (SLC2A1)	ENSP00000416293.2:n.-424C>G
NM_006516.2:c.-424C>G (SLC2A1)	NP_006507.2:n.-424C>G
NR_033967.1:n.27G>C (SLC2A1-DT)