Canonical Allele Identifier: CA803397
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2859103
ClinVar RCV Id: RCV003632187
dbSNP Id: rs778121797
ExAC: 1:43394884 C / T
gnomAD v2: 1-43394884-C-T
gnomAD v3: 1-42929213-C-T
gnomAD v4: 1-42929213-C-T
MyVariant Identifiers: chr1:g.43394884C>T (hg19) chr1:g.42929213C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929213C>T , CM000663.2:g.42929213C>T GRCh38
NC_000001.10:g.43394884C>T , CM000663.1:g.43394884C>T GRCh37
NC_000001.9:g.43167471C>T NCBI36
NG_008232.1:g.34964G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.969G>A MANE Select ENSP00000416293.2:p.Val323=
ENST00000674545.1:n.287G>A
ENST00000674765.1:c.969G>A ENSP00000501811.1:p.Val323=
ENST00000675112.1:n.1270G>A
ENST00000676254.1:n.1418G>A
ENST00000426263.7:c.969G>A ENSP00000416293.2:p.Val323=
ENST00000439722.2:c.848G>A ENSP00000395521.2:n.848G>A
ENST00000475162.3:c.415+1413G>A
ENST00000630287.2:c.*284G>A ENSP00000486694.1:n.*284G>A
NM_006516.2:c.969G>A NP_006507.2:p.Val323=
NM_006516.3:c.969G>A NP_006507.2:p.Val323=
NM_006516.4:c.969G>A MANE Select NP_006507.2:p.Val323=
Search 100 bp 5'
Search 100 bp 3'