Canonical Allele Identifier: CA21251586
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1206717
ClinVar RCV Id: RCV001574455
dbSNP Id: rs74068371
gnomAD v2: 1-43395760-G-T
gnomAD v3: 1-42930089-G-T
gnomAD v4: 1-42930089-G-T
MyVariant Identifiers: chr1:g.43395760G>T (hg19) chr1:g.42930089G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930089G>T , CM000663.2:g.42930089G>T GRCh38
NC_000001.10:g.43395760G>T , CM000663.1:g.43395760G>T GRCh37
NC_000001.9:g.43168347G>T NCBI36
NG_008232.1:g.34088C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.517-54C>A MANE Select ENSP00000416293.2:n.517-54C>A
ENST00000674765.1:c.517-54C>A ENSP00000501811.1:n.517-54C>A
ENST00000675112.1:n.540-54C>A
ENST00000676254.1:n.966-54C>A
ENST00000426263.7:c.517-54C>A ENSP00000416293.2:n.517-54C>A
ENST00000439722.2:c.396-54C>A ENSP00000395521.2:n.396-54C>A
ENST00000475162.3:c.415+537C>A
ENST00000630287.2:c.517-309C>A ENSP00000486694.1:n.517-309C>A
NM_006516.2:c.517-54C>A NP_006507.2:n.517-54C>A
NM_006516.3:c.517-54C>A NP_006507.2:n.517-54C>A
NM_006516.4:c.517-54C>A MANE Select NP_006507.2:n.517-54C>A
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