Canonical Allele Identifier: CA16042396
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372507
ClinVar RCV Id: RCV000414747 RCV001850982 RCV003445919
dbSNP Id: rs1057517822
gnomAD v4: 1-42930724-C-T
MyVariant Identifiers: chr1:g.43396395C>T (hg19) chr1:g.42930724C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930724C>T , CM000663.2:g.42930724C>T GRCh38
NC_000001.10:g.43396395C>T , CM000663.1:g.43396395C>T GRCh37
NC_000001.9:g.43168982C>T NCBI36
NG_008232.1:g.33453G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.418G>A MANE Select ENSP00000416293.2:p.Val140Met
ENST00000674765.1:c.418G>A ENSP00000501811.1:p.Val140Met
ENST00000675112.1:n.441G>A
ENST00000676254.1:n.867G>A
ENST00000372500.4:c.322G>A ENSP00000361578.4:p.Val108Met
ENST00000426263.7:c.418G>A ENSP00000416293.2:p.Val140Met
ENST00000439722.2:c.297G>A ENSP00000395521.2:n.297G>A
ENST00000475162.3:c.317G>A
ENST00000625233.2:n.626G>A
ENST00000630287.2:c.418G>A ENSP00000486694.1:p.Val140Met
NM_006516.2:c.418G>A NP_006507.2:p.Val140Met
NM_006516.3:c.418G>A NP_006507.2:p.Val140Met
NM_006516.4:c.418G>A MANE Select NP_006507.2:p.Val140Met
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