Canonical Allele Identifier: CA803539
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512362
ClinVar RCV Id: RCV002045638
dbSNP Id: rs770867924
ExAC: 1:43396317 C / T
gnomAD v2: 1-43396317-C-T
gnomAD v3: 1-42930646-C-T
gnomAD v4: 1-42930646-C-T
MyVariant Identifiers: chr1:g.43396317C>T (hg19) chr1:g.42930646C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930646C>T , CM000663.2:g.42930646C>T GRCh38
NC_000001.10:g.43396317C>T , CM000663.1:g.43396317C>T GRCh37
NC_000001.9:g.43168904C>T NCBI36
NG_008232.1:g.33531G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.496G>A MANE Select ENSP00000416293.2:p.Val166Ile
ENST00000674765.1:c.496G>A ENSP00000501811.1:p.Val166Ile
ENST00000675112.1:n.519G>A
ENST00000676254.1:n.945G>A
ENST00000426263.7:c.496G>A ENSP00000416293.2:p.Val166Ile
ENST00000439722.2:c.375G>A ENSP00000395521.2:n.375G>A
ENST00000475162.3:c.395G>A
ENST00000625233.2:n.704G>A
ENST00000630287.2:c.496G>A ENSP00000486694.1:p.Val166Ile
NM_006516.2:c.496G>A NP_006507.2:p.Val166Ile
NM_006516.3:c.496G>A NP_006507.2:p.Val166Ile
NM_006516.4:c.496G>A MANE Select NP_006507.2:p.Val166Ile
Search 100 bp 5'
Search 100 bp 3'