Canonical Allele Identifier: CA803398
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379117
ClinVar RCV Id: RCV000439467 RCV002379309 RCV003445975 RCV003445977 RCV000791499 RCV003445976 RCV003445978 RCV003445979
dbSNP Id: rs749426767
ExAC: 1:43394886 C / T
gnomAD v2: 1-43394886-C-T
gnomAD v3: 1-42929215-C-T
gnomAD v4: 1-42929215-C-T
COSMIC: COSM3419240 COSM3419241
MyVariant Identifiers: chr1:g.43394886C>T (hg19) chr1:g.42929215C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929215C>T , CM000663.2:g.42929215C>T GRCh38
NC_000001.10:g.43394886C>T , CM000663.1:g.43394886C>T GRCh37
NC_000001.9:g.43167473C>T NCBI36
NG_008232.1:g.34962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.967G>A MANE Select ENSP00000416293.2:p.Val323Met
ENST00000674545.1:n.285G>A
ENST00000674765.1:c.967G>A ENSP00000501811.1:p.Val323Met
ENST00000675112.1:n.1268G>A
ENST00000676254.1:n.1416G>A
ENST00000426263.7:c.967G>A ENSP00000416293.2:p.Val323Met
ENST00000439722.2:c.846G>A ENSP00000395521.2:n.846G>A
ENST00000475162.3:c.415+1411G>A
ENST00000630287.2:c.*282G>A ENSP00000486694.1:n.*282G>A
NM_006516.2:c.967G>A NP_006507.2:p.Val323Met
NM_006516.3:c.967G>A NP_006507.2:p.Val323Met
NM_006516.4:c.967G>A MANE Select NP_006507.2:p.Val323Met
Search 100 bp 5'
Search 100 bp 3'