Canonical Allele Identifier: CA10609948
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 297355
ClinVar RCV Id: RCV000283656 RCV000340946
dbSNP Id: rs113441673
gnomAD v2: 1-43391375-T-G
gnomAD v3: 1-42925704-T-G
gnomAD v4: 1-42925704-T-G
COSMIC: COSN21607634
MyVariant Identifiers: chr1:g.43391375T>G (hg19) chr1:g.42925704T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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