Canonical Allele Identifier: CA10610250

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 297354
• ClinVar RCV Id: RCV000337942 ; RCV000373944
• dbSNP Id: rs113441673
• gnomAD v3: 1-42925704-T-C
• gnomAD v4: 1-42925704-T-C
• MyVariant Identifiers: chr1:g.43391375T>C (hg19) ; chr1:g.42925704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42925704T>C , CM000663.2:g.42925704T>C	GRCh38
NC_000001.10:g.43391375T>C , CM000663.1:g.43391375T>C	GRCh37
NC_000001.9:g.43163962T>C	NCBI36
NG_008232.1:g.38473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.*1337A>G MANE Select	ENSP00000416293.2:n.*1337A>G
ENST00000426263.7:c.*1337A>G	ENSP00000416293.2:n.*1337A>G
NM_006516.2:c.*1337A>G	NP_006507.2:n.*1337A>G
NM_006516.3:c.*1337A>G	NP_006507.2:n.*1337A>G
NM_006516.4:c.*1337A>G MANE Select	NP_006507.2:n.*1337A>G